Cardiff University | Prifysgol Caerdydd ORCA
Online Research @ Cardiff 
WelshClear Cookie - decide language by browser settings

Utilization of a cryptic noncanonical donor splice site in the KRT14 gene causes a mild form of epidermolysis bullosa simplex

Han, Song, Cooper, David Neil and Bowden, Paul Edward 2006. Utilization of a cryptic noncanonical donor splice site in the KRT14 gene causes a mild form of epidermolysis bullosa simplex. British Journal of Dermatology 155 (1) , pp. 201-3. 10.1111/j.1365-2133.2006.07269.x

Full text not available from this repository.

Abstract

Epidermolysis bullosa simplex (EBS) is a rare skin disease characterized by the sub-nuclear rupture of epidermal basal cells; Weber–Cockayne is the most common variant (EBS-WC; OMIM 131800). Most mutations underlying EBS are found in the KRT5 and KRT14 genes [the Human Intermediate Filament Mutation Database, http://www.interfil.org (accessed 21 January 2006); Human Gene Mutation Database, http://www.hgmd.org (accessed 21 January 2006)]. We report a heterozygous donor splice site mutation (IVS4:927+1 G?A) in the KRT14 gene which abolishes normal splicing in vivo and, very unusually, leads to the utilization of a cryptic noncanonical GA donor splice site within exon 4.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Subjects: R Medicine > R Medicine (General)
Publisher: Wiley-Blackwell
ISSN: 0007-0963
Last Modified: 12 Jun 2019 02:22
URI: http://orca.cf.ac.uk/id/eprint/395

Citation Data

Cited 5 times in Google Scholar. View in Google Scholar

Cited 5 times in Scopus. View in Scopus. Powered By Scopus® Data

Actions (repository staff only)

Edit Item Edit Item