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Premature Termination Codons in the Type VII Collagen Gene (COL7A1) Underlie Severe, Mutilating Recessive Dystrophic Epidermolysis Bullosa

Genomics ◽  
1994 ◽  
Vol 21 (1) ◽  
pp. 160-168 ◽  
Author(s):  
Angela M. Christiano ◽  
Grant Anhalt ◽  
Sheila Gibbons ◽  
Eugene A. Bauer ◽  
Jouni Uitto
Keyword(s):  
Epidermolysis Bullosa ◽  
Premature Termination ◽  
Collagen Gene ◽  
Dystrophic Epidermolysis Bullosa ◽  
Type Vii Collagen ◽  
Premature Termination Codons ◽  
Recessive Dystrophic Epidermolysis Bullosa

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

scholarly journals Genetic linkage of recessive dystrophic epidermolysis bullosa to the type VII collagen gene.

1992 ◽  
Vol 90 (3) ◽  
pp. 1032-1036 ◽  
Author(s):  
A Hovnanian ◽  
P Duquesnoy ◽  
C Blanchet-Bardon ◽  
R G Knowlton ◽  
S Amselem ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Genetic Linkage ◽  
Collagen Gene ◽  
Dystrophic Epidermolysis Bullosa ◽  
Type Vii Collagen ◽  
Recessive Dystrophic Epidermolysis Bullosa
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