Strategy for identification of sequence variants in COL7A1 and a novel 2-bp deletion mutation in recessive dystrophic epidermolysis bullosa

Human Mutation

Volumn 10, Issue 5, 1997, Pages 408-414

  Christiano, Angela M ^a,b   Hoffman, Guy G ^c   Zhang, Xin ^a,b   Xu, Yili ^a,b   Tamai, Yoshiko ^a,b   Greenspan, Daniel S ^c   Uitto, Jouni ^a,b  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

^b THOMAS JEFFERSON UNIVERSITY   (United States)

^c UNIVERSITY OF WISCONSIN SCHOOL OF MEDICINE AND PUBLIC HEALTH   (United States)

Author keywords

Blistering skin diseases; Dystrophic epidermolysis bullosa; Heteroduplex analysis for mutation detection; Type VII collagen gene mutations

Indexed keywords

COLLAGEN TYPE 7;

ARTICLE; CONTROLLED STUDY; DNA POLYMORPHISM; EPIDERMOLYSIS BULLOSA DYSTROPHICA; GENE DELETION; HUMAN; MAJOR CLINICAL STUDY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

COLLAGEN; EPIDERMOLYSIS BULLOSA DYSTROPHICA; EXONS; GENES, RECESSIVE; HUMANS; INTRONS; MUTATION; POLYMERASE CHAIN REACTION; SEQUENCE DELETION;

EID: 0030853052     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)10:5<408::AID-HUMU12>3.0.CO;2-3     Document Type: Article

References (8)

1. Burgeson RE (1993). Type VII collagen, anchoring fibrils, and epidermolysis bullosa. J Invest Dermatol 101:252-255.
2. Christiano AM, Hoffman GG, Chung-Honet LC, Lee S, Cheng W, Uitto J, Greenspan DS (1994a) Structural organization of the human type VII collagen gene (COL7A1), comprised of more exons than any previously characterized gene. Genomics 21:169-179.
3. Christiano AM, Greenspan DS, Lee S, Ditto J (1994b). Cloning of human type VII collagen. Complete primary sequence of the α1(VII) chain and identification of intragenic polymorphisms. J Biol Chem 269:20256-20262.
4. Christiano AM, Anhalt G, Gibbons S, Bauer EA, Ditto J (1994c). Premature termination codons in the type VII collagen gene (COL7A1) underlie severe, mutilating recessive dystrophic epidermolysis bullosa. Genomics 21:160-168.
5. Christiano AM, Ditto J (1996a). Molecular complexity of the cutaneous basement membrane zone: Revelations from the paradigms of epidermolysis bullosa. Exp Dermatol 5:1-11.
6. Christiano AM, Uitto J (1996b). Molecular genetic diagnosis of blistering skin diseases: Impact on dystrophic epidermolysis bullosa. Curr Opin Derm 3:225-232.
7. Christiano AM, LaForgia S, Palier AS, McOuire J, Shimizu H, and Uitto J (1996). DNA-based prenatal diagnosis of recessive dystrophic epidermolysis bullosa in ten families at risk for recurrence. Molec Med 2:59-76.
8. Fine JD, Bauer EA, Briggaman RA, Carter DM, Eady RA, Esterly NB, Holbrook KA, Hurwitz S, Johnson L, Lin A, Pearson R, and Sybert VP (1991) Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa: A consensus report by the subcommittee on diagnosis and classification of the national epidermolysis bullosa registry. J Am Acad Dermatol 24:119-153.