A MUTATION (MET-]ARG) IN THE TYPE-I KERATIN (K14) GENE RESPONSIBLE FOR AUTOSOMAL-DOMINANT EPIDERMOLYSIS-BULLOSA SIMPLEX

被引：56

作者：

HUMPHRIES, MM ^{[1
]}

SHEILS, DM ^{[1
]}

FARRAR, GJ ^{[1
]}

KUMARSINGH, R ^{[1
]}

KENNA, PF ^{[1
]}

MANSERGH, FC ^{[1
]}

JORDAN, SA ^{[1
]}

YOUNG, M ^{[1
]}

HUMPHRIES, P ^{[1
]}

机构：

[1] ADELAIDE HOSP,DEPT DERMATOL,DUBLIN 8,IRELAND

来源：

HUMAN MUTATION | 1993年 / 2卷 / 01期

关键词：

EPIDERMOLYSIS BULLOSA; KERATIN; INTERMEDIATE FILAMENTS;

D O I：

10.1002/humu.1380020107

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We have identified a single base change in exon 4 of the type I keratin gene which results in the replacement of a methionine for an arginine residue at codon 272 in an Irish family displaying an autosomal dominant simplex (Koebner) form of epidermolysis bullosa (EB). This family had previously provided tentative evidence for linkage to genetic markers on chromosome 1q. The mutation cosegregates with the disease, producing a lod score of 4.8 at theta = 0.

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页码：37 / 42

页数：6

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