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

British Journal of Dermatology

Volumn 155, Issue 1, 2006, Pages 201-203

  Han, S ^a   Cooper, D N ^a   Bowden, P E ^a  

^a CARDIFF UNIVERSITY SCHOOL OF MEDICINE   (United Kingdom)

Author keywords

Epidermolysis bullosa simplex; Keratin mutation; Noncanonical donor splice site

Indexed keywords

MESSENGER RNA; RNA DIRECTED DNA POLYMERASE;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; DNA SEQUENCE; EPIDERMOLYSIS BULLOSA SIMPLEX; EXON; GENE; GENE AMPLIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; HETEROZYGOTE; HUMAN; HUMAN TISSUE; KRT14 GENE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RNA SPLICING; SPLICEOSOME;

EPIDERMOLYSIS BULLOSA SIMPLEX; FEMALE; GENES, DOMINANT; HETEROZYGOTE; HUMANS; KERATIN-14; KERATINS; MALE; PEDIGREE; POINT MUTATION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA SPLICE SITES; SEQUENCE ANALYSIS, RNA;

EID: 33745044230     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2006.07269.x     Document Type: Article

References (7)

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