Donor splice site mutation in keratin 5 causes in-frame removal of 22 amino acids of H1 and 1A rod domains in Dowling-Meara epidermolysis bullosa simplex

European Journal of Human Genetics

Volumn 7, Issue 3, 1999, Pages 293-300

  Rugg, Elizabeth L ^a   Rachet Préhu, Marie Odette ^b   Rochat, Ariane ^c   Barrandon, Yann ^c   Goossens, Michel ^b   Lane, E Birgitte ^a   Hovnanian, Alain ^d  

^a UNIVERSITY OF DUNDEE   (United Kingdom)

^b INSERM U468 Hôpital H Mondor   (United Kingdom)

^c ECOLE NORMALE SUPÉRIEURE   (France)

^d UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

Cytoskeleton; Epidermolysis bullosa simplex; Keratin 5; Splice site mutation

Indexed keywords

AMINO ACID; COMPLEMENTARY DNA; KERATIN; NUCLEOTIDE; POLYPEPTIDE; RNA;

ALLELE; ARTICLE; CELL CULTURE; CRYPT CELL; CYTOSKELETON; DISEASE SEVERITY; EPIDERMOLYSIS BULLOSA SIMPLEX; EXON; GENE AMPLIFICATION; GENE DELETION; GENE MUTATION; GENE SEQUENCE; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOBLOTTING; INTRON; KERATINOCYTE; MISSENSE MUTATION; MOLECULAR CLONING; NUCLEOTIDE REPEAT; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SPLICEOSOME;

ALTERNATIVE SPLICING; AMINO ACID SEQUENCE; ANIMALS; BINDING SITES; EPIDERMOLYSIS BULLOSA SIMPLEX; FEMALE; FRAMESHIFT MUTATION; GENETIC SCREENING; HUMANS; KERATIN-14; KERATINS; MALE; MICE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; SEQUENCE DELETION; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 0032962193     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200292     Document Type: Article

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