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Start Over Author "Lemmink, H.H." Journal journal of the european academy of dermatology & venereology
1 results on '"Lemmink, H.H."'

1. Single glycine deletion in COL7A1 acting as glycine substitution in dystrophic epidermolysis bullosa.

Author

Baardman, R., Bremer, J., Diercks, G.F.H., Jan, S.Z., Lemmink, H.H., Bolling, M.C., and Van den Akker, P.C.

Subjects
EPIDERMOLYSIS bullosa, GLYCINE, GENETIC variation
Abstract

New glycine substitution mutations in type VII collagen underlying epidermolysis bullosa pruriginosa but the phenotype is not explained by a common polymorphism in the matrix metalloproteinase-1 gene promoter. Identical glycine substitution mutations in type VII collagen may underlie both dominant and recessive forms of dystrophic epidermolysis bullosa. [Extracted from the article]

Published
2021
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