Epidermolysis bullosa pruriginosa due to a glycine substitution mutation in the COL7A1-gene.
Broekaert SM; Knauss-Scherwitz E; Biedermann T; Metzler G; Has C; Kohlhase J; Röcken M; Schaller M; Acta Dermato-Venereologica, 2006, vol. 86, issue 6, p 556, ISSN 00015555. ISBN 00015555.

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