A homozygous insertion–deletion in the type VII collagen gene (COL7A1) in Hallopeau–Siemens dystrophic epidermolysis bullosa-Reference-Cited by-同舟云学术

A homozygous insertion–deletion in the type VII collagen gene (COL7A1) in Hallopeau–Siemens dystrophic epidermolysis bullosa

Published:1993-11 Issue:3 Volume:5 Page:287-293
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Hilal Latifa,Rochat Ariane,Duquesnoy Philippe,Blanchet-Bardon Claudine,Wechsler Janine,Martin Nadine,Christiano Angela M.,Barrandon Yann,Uitto Jouni,Goossens Michel,Hovnanian Alain

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng1193-287.pdf

Reference46 articles.

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2. Lin, A.N. & Carter, D.M., in Epidermolysis bullosa: Basic and clinical aspects (eds Lin, A.N. & Carter, D.M.) 3–165 (Springer-Verlag, New-York, 1992).

3. Bonifas, J.M., Rothman, A.L. & Epstein, E.H. Jr., Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities. Science 254, 1202–1205 (1991).

4. Coulombe, P.A. et al. Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses. Cell 66, 1301–1311 (1991).

5. Lane, E.B. et al. A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering. Nature 356, 244–246 (1992).

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