Homozygous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophy

Human Molecular Genetics

Volumn 5, Issue 10, 1996, Pages 1539-1546

  Pulkkinen, Leena ^a,f   Smith, Frances J D ^b   Shimizu, Hiroshi ^c   Murata, Satoru ^d   Yaoita, Hideo ^d   Hachisuka, Hiroshi ^e   Nishikawa, Takeji ^c   McLean, W H Irwin ^b   Uitto, Jouni ^a  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

^b UNIVERSITY OF DUNDEE   (United Kingdom)

^c KEIO UNIVERSITY   (Japan)

^d JICHI MEDICAL UNIVERSITY   (Japan)

^e KURUME UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^f KUOPIO UNIVERSITY HOSPITAL   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOSKELETON PROTEIN;

ADULT; ANIMAL TISSUE; ARTICLE; CASE REPORT; DELETION MUTANT; DISEASE ASSOCIATION; ELECTRON MICROSCOPY; EPIDERMOLYSIS BULLOSA SIMPLEX; FEMALE; FRAMESHIFT MUTATION; GENETIC CONSERVATION; HEMIDESMOSOME; HUMAN; IMMUNOFLUORESCENCE; MOUSE; MUSCULAR DYSTROPHY; NONHUMAN; PRIORITY JOURNAL; SARCOLEMMA; SEQUENCE HOMOLOGY; SKIN; STOP CODON;

EID: 0029798270     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/5.10.1539     Document Type: Article

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