scholarly journals Dominant Dystrophic Epidermolysis Bullosa (Pasini) Caused by a Novel Glycine Substitution Mutation in the Type VII Collagen Gene (COL7A1)

1999 ◽  
Vol 112 (5) ◽  
pp. 815-817 ◽  
Author(s):  
M.F. Jonkman ◽  
G. Moreno ◽  
F. Rouan ◽  
A.P. Oranje ◽  
L. Pulkkinen ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Collagen Gene ◽  
Dystrophic Epidermolysis Bullosa ◽  
Type Vii Collagen ◽  
Glycine Substitution ◽  
Substitution Mutation

Heterogeneous Mutations of the Type VII Collagen Gene (COL7A1) in Dystrophic Epidermolysis Bullosa

2000 ◽  
Vol 98 (s42) ◽  
pp. 18P-18P
Author(s):  
JE Mellerio ◽  
GHS Ashton ◽  
MGS Dunnill ◽  
RAJ Eady ◽  
JA McGrath
Keyword(s):  
Epidermolysis Bullosa ◽  
Collagen Gene ◽  
Dystrophic Epidermolysis Bullosa ◽  
Type Vii Collagen

scholarly journals Recurrent Mutations in the Type VII Collagen Gene (COL7A1) in Patients with Recessive Dystrophic Epidermolysis Bullosa

1997 ◽  
Vol 109 (2) ◽  
pp. 246-249 ◽  
Author(s):  
Jemima E. Mellerio ◽  
M.Giles S. Dunnill ◽  
Waridibe Allison ◽  
Gabrielle H.S. Ashton ◽  
Angela M. Christiano ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Collagen Gene ◽  
Dystrophic Epidermolysis Bullosa ◽  
Type Vii Collagen ◽  
Recurrent Mutations ◽  
Recessive Dystrophic Epidermolysis Bullosa
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