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A mutation (met→arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex
Author(s) -
Humphries Marian M.,
Sheils Denise M.,
Farrar Gwyneth J.,
KumarSingh Rajendra,
Kenna Paul F.,
Mansergh Fiona C.,
Jordan Siobhan A.,
Young Marjory,
Humphries Peter
Publication year - 1993
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.1380020107
Subject(s) - epidermolysis bullosa simplex , biology , epidermolysis bullosa , keratin 14 , genetics , keratin 5 , exon , gene , keratin 6a , allele , mutation , keratin , genetic linkage , gene mutation , microbiology and biotechnology , intermediate filament , transgene , genetically modified mouse , cytoskeleton , cell
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 θ = 0. © 1993 Wiley‐Liss, Inc.