Compound heterozygosity for novel splice site mutations in the BPAG2/COL17A1 gene underlies generalized atrophic benign epidermolysis bullosa

Journal of Investigative Dermatology

Volumn 113, Issue 6, 1999, Pages 1114-1118

  Pulkkinen, Leena ^a   Marinkovich, M Peter ^b   Tran, Hoang T ^b   Lin, Lin ^a   Herron, G Scott ^b   Uitto, Jouni ^a  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

^b STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Basement membrane zone; Heritable blistering disease; Heteroduplet analysis; Molecular diagnostics

Indexed keywords

ANTIGEN BP180; COLLAGEN TYPE 17; KALININ; MEMBRANE ANTIGEN; MESSENGER RNA; UNCLASSIFIED DRUG;

ADULT; ARTICLE; BASEMENT MEMBRANE; CASE REPORT; CONTROLLED STUDY; EPIDERMOLYSIS BULLOSA HEREDITARIA; FEMALE; GENE MUTATION; HETEROZYGOSITY; HUMAN; HUMAN CELL; KERATINOCYTE; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; RNA TRANSLATION; STOP CODON;

EID: 0033396298     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1747.1999.00793.x     Document Type: Article

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