A recurrent homozygous nonsense mutation within the LAMA3 gene as a cause of Herlitz junctional epidermolysis bullosa in patients of Pakistani ancestry: evidence for a founder effect

A recurrent homozygous nonsense mutation within the LAMA3 gene as a cause of Herlitz junctional epidermolysis bullosa in patients of Pakistani ancestry: evidence for a founder effect

Item
http://www.wikidata.org/entity/Q28277235
E210K mutation in the gene encoding the beta3 chain of laminin-5 (LAMB3) is predictive of a phenotype of generalized atrophic benign epidermolysis bullosaBeta4 integrin is required for hemidesmosome formation, cell adhesion and cell survivalDetection of novel LAMC2 mutations in Herlitz junctional epidermolysis BullosaPhysiological and pathological implications of laminins: from the gene to the protein.Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants.Diagnosing epidermolysis bullosa type and subtype in infancy using immunofluorescence microscopy: the Stanford experience.Three activator protein-1-binding sites bound by the Fra-2.JunD complex cooperate for the regulation of murine laminin alpha3A (lama3A) promoter activity by transforming growth factor-beta.IAP insertion in the murine LamB3 gene results in junctional epidermolysis bullosa.Prognostic implications of determining 180 kDa bullous pemphigoid antigen (BPAG2) gene/protein pathology in neonatal junctional epidermolysis bullosa.A child with laryngo-onychocutaneous syndrome partially responsive to treatment with thalidomide.
P2860

A recurrent homozygous nonsense mutation within the LAMA3 gene as a cause of Herlitz junctional epidermolysis bullosa in patients of Pakistani ancestry: evidence for a founder effect

Item
http://www.wikidata.org/entity/Q28277235
description
1996 nî lūn-bûn
@nan
1996 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
name
A recurrent homozygous nonsens ...... evidence for a founder effect
@ast
A recurrent homozygous nonsens ...... evidence for a founder effect
@en
A recurrent homozygous nonsens ...... evidence for a founder effect
@nl
type
label
A recurrent homozygous nonsens ...... evidence for a founder effect
@ast
A recurrent homozygous nonsens ...... evidence for a founder effect
@en
A recurrent homozygous nonsens ...... evidence for a founder effect
@nl
prefLabel
A recurrent homozygous nonsens ...... evidence for a founder effect
@ast
A recurrent homozygous nonsens ...... evidence for a founder effect
@en
A recurrent homozygous nonsens ...... evidence for a founder effect
@nl
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P1476
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P2888
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P5875
P6179
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P921
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P1433
P1476
A recurrent homozygous nonsens ...... evidence for a founder effect
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P2093
P2888
P304
P31
P356
10.1111/1523-1747.EP12346349
P407
P433
P478
P577
P5875
P6179
P698
P921