A Common Insertion Mutation in COL7A1 in Two Italian Families with Recessive Dystrophie Epidermolysis Bullosa

Journal of Investigative Dermatology

Volumn 106, Issue 4, 1996, Pages 679-684

  Christiano, Angela M ^a   D'Alessio, Marina ^b   Paradisi, Mauro ^b   Angelo, Corrado ^b   Mazzanti, Cinzia ^b   Puddu, Pietro ^b   Uitto, Jouni ^a  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

^b LABORATORIO DI PATOLOGIA VASCOLARE   (Italy)

Author keywords

Haplotype analysis; Premature termination codon mutations; Recessive dystrophic epidermolysis bullosa; Type VII collagen mutations

Indexed keywords

COLLAGEN TYPE 7;

ADULT; ARTICLE; CASE REPORT; CONTROLLED STUDY; EPIDERMOLYSIS BULLOSA DYSTROPHICA; FAMILIAL DISEASE; FEMALE; HUMAN; HUMAN TISSUE; MALE; MUTATION; PRIORITY JOURNAL;

ADULT; BASE SEQUENCE; COLLAGEN; EPIDERMOLYSIS BULLOSA DYSTROPHICA; FEMALE; HAPLOTYPES; HUMANS; ITALY; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE;

EID: 0030010189     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1111/1523-1747.ep12345508     Document Type: Article

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