A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa-Reference-Cited by-同舟云学术

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A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa

Published:1993-05 Issue:1 Volume:4 Page:62-66
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Christiano Angela M.,Greenspan Daniel S.,Hoffman Guy G.,Zhang Xin,Tamai Yoshiko,Lin Andrew N.,Dietz Harry C.,Hovnanian Alain,Uitto Jouni

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng0593-62.pdf

Reference35 articles.

1. Fine, J.D. et al. 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, 119–135 (1991).

2. Lin, A.N. & Carter, D.M. (eds) Epidermolysis bullosa. Basic and clinical aspects. (Springer, New York, 1992).

3. Uitto, J. & Christiano, A.M. Molecular genetics of the cutaneous basement membrane zone. Perspectives on epidermolysis bullosa and other blistering skin diseases. J. clin. Invest. 90, 687–692 (1992).

4. Fuchs, E. & Coulombe, P.A. Of mice and men: genetic skin diseases of keratin. Cell 69, 899–902 (1992).

5. Epstein, E.H., Jr. Molecular genetics of epidermolysis bullosa. Science 256, 799–804 (1992).

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