FBN1 Gene

Aliases &
Descriptions
for FBN1

Previous GC identifers: GC15M044259 GC15M041748 GC15M046281 GC15M046418

Summaries
for FBN1

Gene Wiki entry for FBN1

Genomic Location
for FBN1

Proteins
for FBN1

PDB structures from and Proteopedia :

1APJ (3D)    1EMN (3D)    1EMO (3D)    1LMJ (3D)    1UZJ (3D)    1UZK (3D)    1UZP (3D)    1UZQ (3D)    

Post-translational modifications:

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (Fibrillin 1)
	Human Recombinant Proteins from Abnova (FBN1)

4 Gene Ontology (GO) cellular component terms (links to tree view):

	Browse Antibodies Central at Invitrogen
	Millipore Mono- and Polyclonal Antibodies for the study of FBN1
	Sigma-Aldrich Antibodies for FBN1
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (Fibrillin 1), each with their AbpromiseSM
	Monoclonal and Polyclonal Antibodies from Abnova (FBN1)
	Novus Biologicals Antibodies for FBN1

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

Protein Domains/
Families
for FBN1

5/12 InterPro domains/families (see all 12 ):

IPR017878 TFG_b-bd  IPR002212 Fibril-assoc  IPR001881 EGF_Ca_bd  IPR000742 EGF_3  IPR011398 Fibrillin    GeneDecks  FBN1 for the domains selected above   About GeneDecksing

Graphical View of Domain Structure for InterPro Entry P35555

ProtoNet protein and cluster: P35555

Gene Function
for FBN1

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (FBN1)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (FBN1)

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

15/20 MGI mutant phenotypes (inferred from 5 alleles) (MGI details for Fbn1) (see all 20 ):

3 Gene Ontology (GO) molecular function terms (links to tree view):

Pathways & Interactions
for FBN1

Drugs & Compounds
for FBN1

Transcripts
for FBN1

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (FBN1)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (FBN1)

Applied Biosystems Silencer® siRNAs: 

REFSEQ mRNAs for FBN1 gene: 

Applied Biosystems TaqMan ® Gene Expression Assays: 

Expression
for FBN1

FBN1 expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for FBN1

¹ / ² / ³

8 probe-sets matching FBN1 gene

	Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
			# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
	32535_at2, 3	U95-A	1	1.00	1.00	0.94	1.21	X63556	1.00	1.00	1.00	1
	63635_at2, 3	U95-C	1	1.00	1.00	0.85	0.79	AI745614	0.40	1.00	0.76	1
	202765_s_at2, 3	U133-A	1	1.00	1.00	--	--	AI264196	0.60	1.00	0.82	1
	202766_s_at2, 3	U133-A	1	1.00	1.00	--	--	NM_000138	0.60	1.00	0.82	1
	235318_at2, 3	U133-B	1	1.00	1.00	--	--	AW955612	0.20	1.00	0.72	1
	202765_s_at2	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
	202766_s_at2	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
	235318_at2	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks  FBN1 for binary patterns associated with the probe-sets selected above   About GeneDecksing

About this table    

GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: TGCAATATGC

SOURCE GeneReport for Unigene cluster: Hs.591133

Expression variation in blood from EXPOLDB for FBN1

Orthologs
for FBN1

Paralogs
for FBN1

Paralogs for FBN1 gene

FBN2²  FBN3²  

SNPs/Variants
for FBN1

Disorders & Mutations
for FBN1

UniProtKB/Swiss-Prot: FBN1_HUMAN, P35555

Medical News
for FBN1

Publications
for FBN1

• Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome. (PubMed id 11700157)^{1, 3, 4, 6} Loeys B.... De Paepe A. (2001)
• In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome. (PubMed id 12525539)^{2, 3, 4} Faivre L....Cormier-Daire V. (2003)
• Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene. (PubMed id 8882780)^{3, 4, 6} Putnam E.A....Milewicz D.M. (1996)
• A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome. (PubMed id 7738200)^{1, 3, 4} Milewicz D.M....Jewett T. (1995)
• Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains. (PubMed id 1301946)^{1, 3, 4} Dietz H.C.... Francomano C.A. (1992)
• Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome. (PubMed id 16220557)^{1, 3, 4} Rommel K.... Arslan-Kirchner M. (2005)
• Association between fibrillin-1 gene exon 15 and 27 polymorphisms and risk of mitral valve prolapse. (PubMed id 12918850)^{1, 3, 6} Chou H.T....Tsai F.J. (2003)
• Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions. (PubMed id 11826022)^{1, 3, 4} Koerkkoe J.... Ala-Kokko L. (2002)
• Association of 5'-untranslated region of the Fibrillin-1 gene with Japanese scleroderma. (PubMed id 12384286)^{1, 3, 6} Kodera T....Bona C.A. (2002)
• A novel de novo mutation in exon 14 of the fibrillin-1 gene associated with delayed secretion of fibrillin in a patient with a mild Marfan phenotype. (PubMed id 9254848)^{1, 3, 4} Booms P.... Robinson P.N. (1997)
• Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene. (PubMed id 1569206)^{1, 3, 4} Dietz H.C.... Cutting G.R. (1992)
• Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies. (PubMed id 16222657)^{1, 3, 4} Arbustini E....Tavazzi L. (2005)
• Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome. (PubMed id 15241795)^{1, 3, 6} Loeys B....De Paepe A. (2004)
• TGGE screening of the entire FBN1 coding sequence in 126 individuals with Marfan syndrome and related fibrillinopathies. (PubMed id 12203992)^{1, 3, 4} Katzke S.... Robinson P.N. (2002)
• The pathogenicity of the Pro1148Ala substitution in the FBN1 gene: causing or predisposing to Marfan syndrome and aortic aneurysm, or clinically innocent? (PubMed id 9150726)^{1, 3, 4} Schrijver I.... Francke U. (1997)
• Characterisation of four novel fibrillin-1 (FBN1) mutations in Marfan syndrome. (PubMed id 8863159)^{1, 3, 4} Ades L.C.... Richards R.I. (1996)
• Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons. (PubMed id 7611299)^{1, 3, 4} Nijbroek G.... Dietz H.C. (1995)
• Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndrome. (PubMed id 8364578)^{1, 3, 4} Pereira L.V.... Bonadio J. (1993)
• Partial sequence of a candidate gene for the Marfan syndrome. (PubMed id 1852207)^{1, 3, 4} Maslen C.L.... Sakai L.Y. (1991)
• Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy. (PubMed id 14695540)^{1, 3, 4} Biggin A.... Ades L. (2004)
• Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies. (PubMed id 12203987)^{1, 3, 4} Robinson P.N.... Rosenberg T. (2002)
• The molecular genetics of Marfan syndrome and related microfibrillopathies. (PubMed id 10633129)^{1, 3, 4} Robinson P.N. and Godfrey M. (2000)
• Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome. (PubMed id 9837823)^{1, 3, 4} Montgomery R.A.... Dietz H.C. (1998)
• Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies. (PubMed id 9401003)^{1, 3, 4} Hayward C. and Brock D.J.H. (1997)
• Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene. (PubMed id 9016526)^{1, 3, 4} Collod-Beroud G.... Boileau C. (1997)
• Solution structure of a pair of calcium-binding epidermal growth factor-like domains: implications for the Marfan syndrome and other genetic disorders. (PubMed id 8653794)^{1, 3, 4} Downing A.K....Handford P.A. (1996)
• A compound-heterozygous Marfan patient: two defective fibrillin alleles result in a lethal phenotype. (PubMed id 7977366)^{1, 3, 4} Karttunen L.... Peltonen L. (1994)
• Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome. (PubMed id 8406497)^{1, 3, 4} Dietz H.C.... Francomano C.A. (1993)
• A novel fibrillin mutation in the Marfan syndrome which could disrupt calcium binding of the epidermal growth factor-like module. (PubMed id 8504310)^{1, 3, 4} Hewett D.R.... Sykes B.C. (1993)
• Three novel mutations of the fibrillin-1 gene and ten single nucleotide polymorphisms of the fibrillin-3 gene in Marfan syndrome patients. (PubMed id 15221638)^{3, 4} Uyeda T.... Ito E. (2004)
• Identification of 9 novel FBN1 mutations in German patients with Marfan syndrome. (PubMed id 10425041)^{3, 4} El-Aleem A.A....Arslan-Kirchner M. (1999)
• Demonstration of the recurrence of Marfan-like skeletal and cardiovascular manifestations due to germline mosaicism for an FBN1 mutation. (PubMed id 10441597)^{3, 4} Collod-Beroud G.... Boileau C. (1999)
• A novel mutation in the neonatal region of the fibrillin (FBN) 1 gene associated with a classical phenotype of marfan syndrome (MfS). (PubMed id 10694921)^{3, 4} Grau U....Reichart B. (1998)
• Mutation screening of all 65 exons of the fibrillin-1 gene in 60 patients with Marfan syndrome: report of 12 novel mutations. (PubMed id 9338581)^{3, 4} Hayward C.... Brock D.J.H. (1997)
• Two novel mutations and a neutral polymorphism in EGF-like domains of the fibrillin gene (FBN1): SSCP screening of exons 15-21 in Marfan syndrome patients. (PubMed id 8004112)^{3, 4} Hayward C.... Brock L.J. (1994)
• An extra cysteine in one of the non-calcium-binding epidermal growth factor-like motifs of the FBN1 polypeptide is connected to a novel variant of Marfan syndrome. (PubMed id 8040326)^{3, 4} Stahl-Hallengren C.... Peltonen L. (1994)
• A new missense mutation of fibrillin in a patient with Marfan syndrome. (PubMed id 8071963)^{3, 4} Hewett D.R.... Sykes B.C. (1994)
• Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome. (PubMed id 8136837)^{3, 4} Kainulainen K.... Peltonen L. (1994)
• Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. (PubMed id 1852208)^{3, 4} Dietz H.C.... Francomano C.A. (1991)
• Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes. (PubMed id 1852206)^{3, 4} Lee B.... Hollister D.W. (1991)
• Allelic variation in normal human FBN1 expression in a family with Marfan syndrome: a potential modifier of phenotype? (PubMed id 12915484)^{1, 3} Hutchinson S....Handford P.A. (2003)
• An FBN1 pseudoexon mutation in a patient with Marfan syndrome: confirmation of cryptic mutations leading to disease. (PubMed id 18795226)^{1, 3} Guo D.C....Milewicz D.M. (2008)
• Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. (PubMed id 17701892)^{1, 3} Faivre L....Boileau C. (2007)
• Novel non-synonymous mutation in the transforming growth factor beta binding protein-like (TB) domain of the fibrillin-1 (FBN1) gene in a Han Chinese family with Marfan syndrome (MFS). (PubMed id 17984934)^{1, 3} Qin Y....Chen Z.J. (2007)
• Novel FBN1 mutations associated with predominant ectopia lentis and marfanoid habitus in Chinese patients. (PubMed id 17679947)^{1, 3} Jin C....Wu R. (2007)
• Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: Identification of 20 novel mutations and two novel polymorphisms in the FBN1 gene. (PubMed id 11933199)^{1, 3} Matyas G....Steinmann B. (2002)
• [Two gene mutations in fibrillin 1 of Marfan syndrome] (PubMed id 17680538)^{1, 3} Chen X.J....Chen T. (2007)
• Erratum: Detection of six novel FBN1 mutations in British patients affected by Marfan syndrome. (PubMed id 11748851)^{1, 3} Comeglio P....Child A.H. (2001)
• FBN1 mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel FBN1 mutations. (PubMed id 18435798)^{1, 3} Attanasio M....Pepe G. (2008)
• Induction of macrophage chemotaxis by aortic extracts of the mgR Marfan mouse model and a GxxPG-containing fibrillin-1 fragment. (PubMed id 17030689)^{1, 3} Guo G....Robinson P.N. (2006)
• Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations. (PubMed id 19117906)^{1, 3} Faivre L....Jondeau G. (2009)
• Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion. (PubMed id 19353630)^{1, 3} Faivre L....Jondeau G. (2009)
• Search for correlations between FBN1 genotype and complete Ghent phenotype in 44 unrelated Norwegian patients with Marfan syndrome. (PubMed id 17663468)^{1, 3} Rand-Hendriksen S....Paus B. (2007)
• Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome. (PubMed id 17492313)^{1, 3} Matyas G....Berger W. (2007)
• Homozygosity for a FBN1 missense mutation: clinical and molecular evidence for recessive Marfan syndrome. (PubMed id 17568394)^{1, 3} de Vries B.B....Hamel B.C. (2007)
• Detection of six novel FBN1 mutations in British patients affected by Marfan syndrome. (PubMed id 11524736)^{1, 3} Comeglio P....Child A.H. (2001)
• Prevalence of dural ectasia in 63 gene-mutation-positive patients with features of Marfan syndrome type 1 and Loeys-Dietz syndrome and report of 22 novel FBN1 mutations. (PubMed id 19159394)^{1, 3} SAPylen B....Schmidtke J. (2009)
• Detection of 53 FBN1 mutations (41 novel and 12 recurrent) and genotype-phenotype correlations in 113 unrelated probands referred with Marfan syndrome, or a related fibrillinopathy. (PubMed id 19161152)^{1, 3} Turner C.L....Foulds N.C. (2009)
• The roles of two novel FBN1 gene mutations in the genotype-phenotype correlations of Marfan syndrome and ectopia lentis patients with marfanoid habitus. (PubMed id 18471089)^{1, 3} Li D....Ma X. (2008)
• Cellular and molecular studies of Marfan syndrome mutations identify co-operative protein folding in the cbEGF12-13 region of fibrillin-1. (PubMed id 17324963)^{1, 3} Whiteman P....Handford P.A. (2007)
• Sequence variations in the 5' upstream regions of the FBN1 gene associated with Marfan syndrome. (PubMed id 16617303)^{1, 3} Singh K.K....Arslan-Kirchner M. (2006)
• Marfan syndrome-causing mutations in fibrillin-1 result in gross morphological alterations and highlight the structural importance of the second hybrid domain. (PubMed id 16905551)^{1, 3} Mellody K.T....Kielty C.M. (2006)
• Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan-related phenotypes. (PubMed id 16835936)^{1, 3} Sakai H....Matsumoto N. (2006)
• Bovine model of Marfan syndrome results from an amino acid change (c.3598G > A, p.E1200K) in a calcium-binding epidermal growth factor-like domain of fibrillin-1. (PubMed id 15776436)^{1, 3} Singleton A.C....Pace J.M. (2005)
• Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome. (PubMed id 15254584)^{1, 3} Judge D.P....Dietz H.C. (2004)
• Defective secretion of recombinant fragments of fibrillin-1: implications of protein misfolding for the pathogenesis of Marfan syndrome and related disorders. (PubMed id 12651868)^{1, 3} Whiteman P. and Handford P.A. (2003)
• Identification of fibrillin-1 gene mutations in Marfan syndrome by high-resolution melting analysis. (PubMed id 19328768)³ Hung C.C....Su Y.N. (2009)
• Compound-heterozygous Marfan syndrome. (PubMed id 19059503)³ Van Dijk F.S....Cobben J.M. (2009)
• Characteristics in phenotypic manifestations of genetically proved Marfan syndrome in a Japanese population. (PubMed id 19361604)³ Akutsu K....Morisaki T. (2009)
• Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands. (PubMed id 18310266)³ Faivre L....Jondeau G. (2008)
• Severe Marfan syndrome due to FBN1 exon deletions. (PubMed id 18412115)³ Blyth M....Bunyan D. (2008)
• The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations. (PubMed id 17657824)³ Comeglio P....Child A. (2007)
• Application of dHPLC for mutation detection of the fibrillin-1 gene for the diagnosis of Marfan syndrome in a National Health Service Laboratory. (PubMed id 17627385)³ Howarth R....Harvey J.F. (2007)
• [AFBN1 gene in patients with Marfan syndrome] (PubMed id 17209430)³ Valiev R.R....Khusnutdinova E.K. (2006)
• Treatment of aortic disease in patients with Marfan syndrome. (PubMed id 15781745)³ Milewicz D.M....Miller D.C. (2005)
• Molecular genetics of Marfan syndrome. (PubMed id 15861007)³ Boileau C....Matsumoto N. (2005)
• Congenital diaphragmatic eventration and bilateral uretero-hydronephrosis in a patient with neonatal Marfan syndrome caused by a mutation in exon 25 of the FBN1 gene and review of the literature. (PubMed id 14586646)³ Revencu N....Verellen-Dumoulin C. (2004)
• Microcornea and subluxated lenses due to a splicing error in the fibrillin-1 gene in a patient with Marfan syndrome. (PubMed id 12695261)³ Vital M.C....Milewicz D.M. (2003)
• Gene symbol: FBN1. Disease: Marfan syndrome. (PubMed id 12575662)³ Comeglio P....Child A.H. (2003)
• A nonsense mutation in the fibrillin-1 gene of a Marfan syndrome patient induces NMD and disrupts an exonic splicing enhancer. (PubMed id 12130535)³ Caputi M....Beemon K.L. (2002)
• Correlation of a recurrent FBN1 mutation (R122C) with an atypical familial Marfan syndrome phenotype. (PubMed id 9452085)⁴ Black C....Boxer M. (1998)
• Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome. (PubMed id 8563763)³ Sood S....Dietz H.C. (1996)
• A comparative histologic study of the fibrillin microfibrillar system in the lens capsule of normal subjects and subjects with Marfan syndrome. (PubMed id 9430549)¹ Mir S....Traboulsi E.I. (1998)
• Analyses of truncated fibrillin caused by a 366 bp deletion in the FBN1 gene resulting in Marfan syndrome. (PubMed id 7945217)¹ Raghunath M....Steinmann B. (1994)
• Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders. (PubMed id 8541880)¹ Dietz H.C. and Pyeritz R.E. (1995)
• Fibrillin in Marfan syndrome and tight skin mice provides new insights into transforming growth factor-beta regulation and systemic sclerosis. (PubMed id 17053502)¹ Lemaire R....Lafyatis R. (2006)
• RGD-containing fibrillin-1 fragments upregulate matrix metalloproteinase expression in cell culture: a potential factor in the pathogenesis of the Marfan syndrome. (PubMed id 15517394)¹ Booms P....Robinson P.N. (2005)
• Dermal fibroblast culture as a model system for studies of fibrillin assembly and pathogenetic mechanisms: defects in distinct groups of individuals with Marfan's syndrome. (PubMed id 8804362)¹ Brenn T....Furthmayr H. (1996)
• Fibrillin abnormalities and prognosis in Marfan syndrome and related disorders. (PubMed id 8533811)¹ Aoyama T....Furthmayr H. (1995)
• Quantitative differences in biosynthesis and extracellular deposition of fibrillin in cultured fibroblasts distinguish five groups of Marfan syndrome patients and suggest distinct pathogenetic mechanisms. (PubMed id 8040255)¹ Aoyama T....Furthmayr H. (1994)
• Abnormal fibrillin assembly by dermal fibroblasts from two patients with Marfan syndrome. (PubMed id 8132720)¹ Kielty C.M. and Shuttleworth C.A. (1994)
• Microfibril abnormalities of the lens capsule in patients with Marfan syndrome and ectopia lentis. (PubMed id 10779844)¹ Traboulsi E.I....Maumenee I.H. (2000)
• Clustering of mutations associated with mild Marfan-like phenotypes in the 3' region of FBN1 suggests a potential genotype-phenotype correlation. (PubMed id 10756346)¹ Palz M....Robinson P.N. (2000)
• [Contribution of genetics to pathogenicity and diagnosis of Marfan syndrome] (PubMed id 9587455)¹ Boileau C....Bonnet D. (1997)
• Abnormal fibrillin metabolism in bovine Marfan syndrome. (PubMed id 8456941)¹ Potter K.A....Milewicz D.M. (1993)
• Deficiencies of fibrillin and decorin in fibroblast cultures of a patient with neonatal Marfan syndrome. (PubMed id 1479602)¹ Superti-Furga A....Willems P.J. (1992)
• Multi-exon deletions of the FBN1 gene in Marfan syndrome. (PubMed id 11710961)¹ Liu W....Francke U. (2001)
• Eight novel mutations of the FBN1 gene found in Japanese patients with Marfan syndrome. (PubMed id 11139245)¹ Matsukawa R....Morisaki T. (2001)
• Immunohistochemical abnormalities of fibrillin in cardiovascular tissues in Marfan's syndrome. (PubMed id 9124898)¹ Fleischer K.J....Laschinger J.C. (1997)
• Double mutant fibrillin-1 (FBN1) allele in a patient with neonatal Marfan syndrome. (PubMed id 8880577)¹ Wang M....Godfrey M. (1996)

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