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

Authors
HUMPHRIES MM SHEILS DM FARRAR GJ KUMARSINGH R KENNA PF MANSERGH FC JORDAN SA YOUNG M HUMPHRIES P
Citation
Mm. Humphries et al., A MUTATION (MET-]ARG) IN THE TYPE-I KERATIN (K14) GENE RESPONSIBLE FOR AUTOSOMAL-DOMINANT EPIDERMOLYSIS-BULLOSA SIMPLEX, Human mutation, 2(1), 1993, pp. 37-42
Citations number
46
Categorie Soggetti
Genetics & Heredity
Journal title
Human mutation → ACNP
ISSN journal
10597794
Volume
2
Issue
1
Year of publication
1993
Pages
37 - 42
Database
ISI
SICI code
1059-7794(1993)2:1<37:AM(ITT>2.0.ZU;2-N
Abstract
We have identified a single base change in exon 4 of the type I kerati n gene which results in the replacement of a methionine for an arginin e residue at codon 272 in an Irish family displaying an autosomal domi nant simplex (Koebner) form of epidermolysis bullosa (EB). This family had previously provided tentative evidence for linkage to genetic mar kers on chromosome 1q. The mutation cosegregates with the disease, pro ducing a lod score of 4.8 at theta = 0.