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Late-onset inversa recessive dystrophic epidermolysis bullosa caused by glycine substitutions in collagen type VII

โœ Scribed by M. Leverkus; A. Ambach; M. Hoefeld-Fegeler; J. Kohlhase; E. Schmidt; H. Schumann; C. Has; H. Gollnick


Book ID
108671638
Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
318 KB
Volume
164
Category
Article
ISSN
0007-0963

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## Communicated by Michel Goossens The Hallopeau-Siemens variant of recessive dystrophic epidermolysis bullosa (HS-RDEB) is a severe inherited skin disease characterized by the absence of collagen type VII (COLVII) and anchoring fibrils (AF), caused by mutations in collagen type VII gene (COL7A1).