Epidermolysis bullosa simplex Dowling-Meara due to an arginine to cysteine substitution in exon 1 of keratin 14

Australasian Journal of Dermatology

Volumn 43, Issue 1, 2002, Pages 28-34

  Premaratne, Champi ^a   Klingberg, Sandra ^b   Glass, Ian ^b   Wright, Kellie ^b   Murrell, Dédée ^a,c  

^a UNIVERSITY OF NEW SOUTH WALES   (Australia)

^b ROYAL BRISBANE AND WOMEN'S HOSPITAL   (Australia)

^c ST GEORGE HOSPITAL   (Australia)

Author keywords

Genes; Intermediate filaments; Point mutation; Prenatal diagnosis

Indexed keywords

ARGININE; CYSTEINE; KERATIN; THYMINE;

AMINO TERMINAL SEQUENCE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BASEMENT MEMBRANE; BLISTER; CASE REPORT; CHILD; CODON; CONTROLLED STUDY; CYTOLYSIS; EPIDERMIS; EPIDERMOLYSIS BULLOSA; EXON; GENE MUTATION; GENETIC CODE; HUMAN; HUMAN TISSUE; MALE; MISSENSE MUTATION; PROTEIN DOMAIN; SKIN BIOPSY; SKIN DISEASE;

AMINO ACID SEQUENCE; ARGININE; CYSTEINE; EPIDERMOLYSIS BULLOSA SIMPLEX; EXONS; FEMALE; FOLLOW-UP STUDIES; HUMANS; INFANT, NEWBORN; KERATIN-14; KERATINS; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; PREGNANCY; PRENATAL DIAGNOSIS; SEVERITY OF ILLNESS INDEX; SKIN;

EID: 0036180548     PISSN: 00048380     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1440-0960.2002.00548.x     Document Type: Article

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