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Titolo:
A COMMON KERATIN-5 GENE MUTATION IN EPIDERMOLYSIS-BULLOSA SIMPLEX WEBER-COCKAYNE
Autore:
EHRLICH P; SYBERT VP; SPENCER A; STEPHENS K;
Indirizzi:
UNIV WASHINGTON,DEPT MED,DIV MED GENET,MAILSTOP RG-25 SEATTLE WA 98195 UNIV WASHINGTON,DEPT MED,DIV MED GENET SEATTLE WA 98195 UNIV WASHINGTON,DEPT PEDIAT,DIV MED GENET SEATTLE WA 98195 UNIV WASHINGTON,DEPT PEDIAT,DIV DERMATOL SEATTLE WA 98195 UNIV WASHINGTON,DEPT PEDIAT,DIV DERMATOL SEATTLE WA 98195 WASHINGTON UNIV,DEPT PATHOL SEATTLE WA 00000
Titolo Testata:
Journal of investigative dermatology
fascicolo: 5, volume: 104, anno: 1995,
pagine: 877 - 879
SICI:
0022-202X(1995)104:5<877:ACKGMI>2.0.ZU;2-9
Fonte:
ISI
Lingua:
ENG
Soggetto:
POINT MUTATIONS; DIAGNOSIS;
Keywords:
INTERMEDIATE; FILAMENTS; BLISTERING; EPIDERMAL; DIAGNOSIS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
17
Recensione:
Indirizzi per estratti:
Citazione:
P. Ehrlich et al., "A COMMON KERATIN-5 GENE MUTATION IN EPIDERMOLYSIS-BULLOSA SIMPLEX WEBER-COCKAYNE", Journal of investigative dermatology, 104(5), 1995, pp. 877-879

Abstract

The Weber-Cockayne subtype of epidermolysis bullosa simplex is an inherited skin-fragility disorder characterized by basal keratinocyte lysis and epidermal blistering confined primarily to the hands and feet. The disorder results from a mutation in either the keratin 5 or keratin 14 gene, which encode the peptide components of the obligate heterodimeric keratin intermediate filaments of the basal cell, We have determined that a T --> G substitution mutation in keratin 5, which resultsin a Ile --> Ser change at codon 161, is common among patients with the Weber-Cockayne disease variant, accounting for six of 13 cases tested. The observed high frequency of this mutation may result from either a mutational hot spot or a founder effect. The potential utility of this common mutation in confirming disease status in some at-risk individual is discussed.

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Documento generato il 27/11/20 alle ore 02:08:17