DEFB104A Gene
protein-coding GIFtS: 45
GCID: GC08P007693
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defensin, beta 104A(Previous names: defensin, beta 104 )
(Previous symbol: DEFB104)
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Aliases
for DEFB104A gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Defensin, Beta 104A1 2 | | BD-42 3 | | DEFB-41 2 3 | | HBD-41 | | DEFB1041 2 3 | | Beta-Defensin 1042 | | DEFB41 2 3 | | Defensin, Beta 42 | | Defensin, Beta 1041 3 | | Beta-Defensin 43 |
Export aliases for DEFB104A gene to outside databasesPrevious GC identifers: GC08M007316 GC08P007732 |
Summaries
for DEFB104A gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for DEFB104A:
Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Defensins are short, processedpeptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins andtheta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions.Chromosome 8p23 contains at least two copies of the duplicated beta-defensin cluster. This duplication results in twoidentical copies of defensin, beta 104, DEFB104A and DEFB104B, in head-to-head orientation. This gene, DEFB104A,represents the more centromeric copy. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: D104A_HUMAN, Q8WTQ1Function: Has antimicrobial activity. Synergistic effects with lysozyme and DEFB103
Gene Wiki entry for DEFB104A
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Genomic Views
for DEFB104A gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000008.10 NC_018919.1 NT_077531.4
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the DEFB104A gene promoter:
C/EBPbeta Pbx1a CUTL1 AREB6 POU2F1 POU2F1a Meis-1a Pax-4a
Other transcription factors
Search SABiosciences Chromatin IP Primers for DEFB104A
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DEFB104A |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 8p23.1 Ensembl cytogenetic band: 8p23.1 HGNC cytogenetic band: 8p23.1DEFB104A Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 8 GeneLoc Exon Structure GeneLoc location for GC08P007693: view genomic region
(about GC identifiers)
Start:
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7,693,993 bp from pter |
End:
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7,698,764 bp from pter |
Size:
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4,772 bases |
Orientation:
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plus strand |
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Proteins
for DEFB104A gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: D104A_HUMAN, Q8WTQ1 (See
protein sequence)Recommended Name: Beta-defensin 104 precursor Size: 72 amino acids; 8526 Da
Subcellular location: Secreted
Secondary accessions: Q496I2 Q496I3 Q496I4Explore the universe of human proteins at neXtProt for DEFB104A: NX_Q8WTQ1
DEFB104A Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_525128.2
ENSEMBL proteins: ENSP00000320813 Reactome Protein details: Q8WTQ1
Human Recombinant Protein Products:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005576 | extracellular region |
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DEFB104A for ontologies About GeneDecksing
DEFB104A Antibody Products:
Assay Products for DEFB104A: |
Protein
Domains /
Families
for DEFB104A gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
DEFB104A for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q8WTQ1ProtoNet protein and cluster: Q8WTQ1 UniProtKB/Swiss-Prot: D104A_HUMAN, Q8WTQ1Similarity: Belongs to the beta-defensin family |
Function
for DEFB104A gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: D104A_HUMAN, Q8WTQ1Function: Has antimicrobial activity. Synergistic effects with lysozyme and DEFB103Induction: Antimicrobial activity is decreased when the sodium chloride concentration is increased
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DEFB104A
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DEFB104A
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
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Synthesis Service for DEFB104A | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DEFB104A |
|
Pathways & Interactions
for DEFB104A gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
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Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Beta defensins | | | 2 | Immune System | |
Pathway sources
See GeneCards unified pathways
Show all pathways
5/6 
Reactome Pathways for DEFB104A (see all 6)
DEFB104A for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DEFB104A
Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0042742 | defense response to bacterium |
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DEFB104A for ontologies About GeneDecksing
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Drugs & Compounds
for DEFB104A gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for DEFB104A
2 HMDB Compounds for DEFB104A About this table
Search CenterWatch for drugs/clinical trials and news about DEFB104A / D104A
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Transcripts
for DEFB104A gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for DEFB104A gene: NM_080389.2 Unigene Cluster for DEFB104A: Defensin, beta 104A Hs.742246 Unigene Representative Sequence: NM_0803891 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000314265(uc003wrv.3)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DEFB104A
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DEFB104A
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: DEFB104A (NM_080389) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for DEFB104A | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DEFB104A |
2 DOTS entries: DT.120635691 DT.95175211 2 AceView cDNA sequences: NM_080389 AJ314834
GeneLoc Exon Structure
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Expression
for DEFB104A gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| DEFB104A expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
About this image
See DEFB104A Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for DEFB104A
SOURCE GeneReport for Unigene cluster: Hs.742246
UniProtKB/Swiss-Prot: D104A_HUMAN, Q8WTQ1Tissue specificity: High expression in the testis. Gastric antrum exhibited relatively high levels. A lower expressionis observed in uterus and neutrophils thyroid gland, lung, and kidney. No detectable expression in other tissuestested
SABiosciences Custom PCR Arrays for DEFB104A
Primer
Products: | | Browse OriGene genome-wide validated SYBR primer pairs
Browse OriGene validated miRNA SYBR primer pairs
| | | Search SABiosciences RT2 qPCR
Primer Assays in human, mouse, rat DEFB104A | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DEFB104A | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DEFB104A |
Orthologs
for DEFB104A gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
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--
ENSEMBL Gene Tree for DEFB104A (if available)
TreeFam Gene Tree for DEFB104A (if available) |
Paralogs
for DEFB104A gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for DEFB104A gene
- DEFB104B1 2
4 SIMAP similar genes for DEFB104A using alignment to 1 protein entry: D104A_HUMAN:DEFB108B DEFB108P1 DEFB108P2 DEFB115
DEFB104A for paralogs About GeneDecksing
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Genomic Variants
for DEFB104A gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 8 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for DEFB104A (7693993 - 7698764 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 37 variations for DEFB104A
15/29 CNVs (see all 29): 70259 0734 8593 2117 0736 34519 2119 34453 70271 31424 7702 9081 52607 52617 0733
8 Inversions: 37309 37307 37308 37304 37305 37306 37310 37303 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DEFB104A |
|
Disorders
/ Diseases
for DEFB104A gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
DEFB104A for disorders About GeneDecksing
11  diseases for DEFB104A: About MalaCardsulcerative colitis cystic fibrosis celiac disease crohn's disease
acute pancreatitis rhinitis fibrosis prostate cancer
pancreatitis prostatitis thyroiditis
Genetic Association Database (GAD): DEFB104A
Human Genome Epidemiology (HuGE) Navigator: DEFB104A (3 documents)
Export disorders for DEFB104A gene to outside databases
|
Publications
for DEFB104A gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for DEFB104A gene, integrated from 9 sources (see all 33):
(articles sorted by number of sources associating them with DEFB104A) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Distribution of human beta-defensin polymorphisms in various control and cystic fibrosis populations. (PubMed id 15820309)1, 4, 9 Vankeerberghen A....Cuppens H. (2005)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Human beta-defensin 4: a novel inducible peptide with a specific salt-sensitive spectrum of antimicrobial activity. (PubMed id 11481241)1, 2 Conejo-Garcia J.-R....Forssmann W.-G. (2001)
- Evidence for duplication of the human defensin gene DEFB4 in chromosomal region 8p22-23 and implications for the analysis of SNP allele distribution. (PubMed id 15727258)1, 9 Boniotto M....Gallagher G. (2004)
- Low expression of human beta-defensin 1 in duodenum o f celiac patients is partially restored by a gluten-free diet. (PubMed id 20128731)1, 9 Intrieri M....Nardone G. (2010)
- Expression of b-defensin-4 in 'an in vivo and ex vivo model' of human osteoarthritic knee meniscus. (PubMed id 21879330)1 Musumeci G....Loreto C. (2012)
- Copy number variation of I^-defensin genes in BehAset's disease. (PubMed id 21385545)1 Park J.J....Lee E.B. (2011)
- Analysis of beta-defensin and Toll-like receptor gene copy number variation in celiac disease. (PubMed id 20483368)1 Fernandez-Jimenez N....Bilbao J.R. (2010)
- Production of bioactive human beta-defensin-4 in Esch erichia coli using SUMO fusion partner. (PubMed id 20526896)1 Li J.F....Zhang S.Q. (2010)
- The innate immune molecule, NOD1, regulates direct ki lling of Helicobacter pylori by antimicrobial peptides. (PubMed id 20039881)1 Grubman A....Ferrero R.L. (2010)
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External Searches for DEFB104A gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
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Genome Databases showing DEFB104A gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing DEFB104A gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing DEFB104A gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for DEFB104A | Pharmacogenomics, SNPs, Pathways |
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| | |
About This Section
| Patent Information for DEFB104A gene:
Search GeneIP for patents involving DEFB104A
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for DEFB104A gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for DEFB104A | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DEFB104A | | Browse OriGene genome-wide validated SYBR primer pairs | | | OriGene Protein Over-expression Lysate for DEFB104A | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for DEFB104A | | Browse 3'-UTR reporter clones for miRNA target validation | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DEFB104A | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DEFB104A | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat DEFB104A | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DEFB104A | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DEFB104A | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DEFB104A | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DEFB104A | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DEFB104A |
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 | | | | |  |  |  | | | | Search ThermoFisher Antibodies for DEFB104A |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DEFB104A |
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