Novel compound heterozygous mutations in the plectin gene in epidermolysis bullosa with muscular dystrophy and the use of protein truncation test for detection of premature termination codon mutations

Laboratory Investigation

Volumn 78, Issue 2, 1998, Pages 195-204

  Dang, Minh ^a   Pulkkinen, Leena ^a,b   Smith, Frances J D ^a   McLean, W H Irwin ^a   Uitto, Jouni ^a  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

^b KUOPIO UNIVERSITY HOSPITAL   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CODON; CYTOSKELETON; EPIDERMOLYSIS BULLOSA; GENE MUTATION; HUMAN; MALE; MUSCULAR DYSTROPHY; PRIORITY JOURNAL; STOP CODON;

ADULT; BASE SEQUENCE; CODON, TERMINATOR; DNA MUTATIONAL ANALYSIS; EPIDERMOLYSIS BULLOSA; HETEROZYGOTE; HUMANS; INTERMEDIATE FILAMENT PROTEINS; MALE; MOLECULAR SEQUENCE DATA; MUSCULAR DYSTROPHIES; MUTATION; PEDIGREE; PLECTIN; POLYMORPHISM, GENETIC;

EID: 0031892755     PISSN: 00236837     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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