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Dystrophic Epidermolysis Bullosa with One Dominant and One Recessive Mutation of the COL7A1 Gene in a Child with Deafness

✍ Scribed by Sarah Weinel; Anne W. Lucky; Jouni Uitto; Ellen G. Pfendner; Daniel Choo

Book ID
109090555
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
150 KB
Volume
25
Category
Article
ISSN
0736-8046

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Recessive dystrophic epidermolysis bullo
Recessive dystrophic epidermolysis bullosa caused by COL7A1 hemizygosity and a missense mutation with complex effects on splicing
✍ Matthias Titeux; JosΓ© Enrique MejΓ­a; LucinΓ© Mejlumian; Sylvie Bourthoumieu; Sand πŸ“‚ Article πŸ“… 2006 πŸ› John Wiley and Sons 🌐 English βš– 416 KB

Loss-of-function mutations in the gene encoding type VII collagen, COL7A1, are the molecular basis of the blistering skin disorder, recessive dystrophic epidermolysis bullosa (RDEB). COL7A1 maps to a region of the short arm of chromosome 3 that has been found to be deleted in many types of malignanc

Frameshift mutations in the type VII col
Frameshift mutations in the type VII collagen gene (COL7A1) in five Mexican cousins with recessive dystrophic epidermolysis bullosa
✍ Salas-Alanis; Mellerio; Amaya-Guerra; Ashton; Eady; Mcgrath πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 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