Three keratin gene mutations account for the majority of dominant simplex epidermolysis bullosa cases within the population of Ireland

Human Mutation

Volumn 8, Issue 1, 1996, Pages 57-63

  Humphries, Marian M ^a   Mansergh, Fiona C ^a   Kiang, Anna Sophie ^a   Jordan, Siobhán A ^a   Sheils, Denise M ^a   Martin, Michael J ^a   Farrar, G Jane ^a   Kenna, Paul F ^a   Young, Marjorie M ^b   Humphries, Peter ^a  

^a TRINITY COLLEGE DUBLIN   (Ireland)

^b ADELAIDE AND MEATH HOSPITAL   (Ireland)

Author keywords

EPPK; Keratin gene; Linkage analysis; SSCPE

Indexed keywords

KERATIN;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; EPIDERMOLYSIS BULLOSA; FAMILIAL DISEASE; FEMALE; GENE MUTATION; GENETIC LINKAGE; HUMAN; IRELAND; MAJOR CLINICAL STUDY; MALE; PEDIGREE; POLYMERASE CHAIN REACTION; PREVALENCE; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM;

AMINO ACID SEQUENCE; CONSERVED SEQUENCE; EPIDERMOLYSIS BULLOSA SIMPLEX; FEMALE; GENES, DOMINANT; HUMANS; IRELAND; KERATINS; MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; POINT MUTATION;

EID: 15844400283     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1996)8:1<57::AID-HUMU8>3.0.CO;2-M     Document Type: Article

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