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A Novel Glycine Mutation in the Col7a1 Gene Leading to Dominant Dystrophic Epidermolysis Bullosa with Intra-Familial Phenotypical Heterogeneity

โœ Scribed by ELISABETH RIEDL; ALFRED KLAUSEGGER; JOHANN W. BAUER; DAGMAR FOEDINGER; HARALD KITTLER


Book ID
109090765
Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
163 KB
Volume
26
Category
Article
ISSN
0736-8046

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Frameshift mutations in the type VII col
โœ Salas-Alanis; Mellerio; Amaya-Guerra; Ashton; Eady; Mcgrath ๐Ÿ“‚ Article ๐Ÿ“… 1998 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 819 KB

Dystrophic epidermolysis bullosa (DEB) is caused by mutations in the type VII collagen gene (COL7A1). In this study, we assessed the molecular basis of recessive DEB in five affected individuals from two Mexican families. Both fathers of the affected children were first cousins. Genomic DNA was extr