Premature termination codon mutations in the type VII collagen gene in recessive dystrophic epidermolysis bullosa result in nonsense-mediated mRNA decay and absence of functional protein

Journal of Investigative Dermatology

Volumn 109, Issue 3, 1997, Pages 390-394

  Christiano, Angela M ^a   Amano, Satoshi ^b   Eichenfield, Lawrence F ^c   Burgeson, Robert E ^b   Uitto, Jouni ^a  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Blistering skin diseases; Cutaneous basement membrane zone; Genodermatoses

Indexed keywords

COLLAGEN TYPE 7; GENE PRODUCT;

ALLELE; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; COLLAGEN SYNTHESIS; CONTROLLED STUDY; EPIDERMOLYSIS BULLOSA DYSTROPHICA; GENE MUTATION; HUMAN; HUMAN CELL; HUMAN TISSUE; KERATINOCYTE; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; RNA PROCESSING; STOP CODON;

EID: 0030856088     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1111/1523-1747.ep12336276     Document Type: Article

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