Characterization of mutations in the type VII collagen gene in patients with the dystrophic forms of epidermolysis bullosa

1993 ◽  
Vol 6 (1) ◽  
pp. 17
Author(s):  
Angela M. Christiano ◽  
Eugene A. Bauer ◽  
Jouni Uitto
Keyword(s):  
Epidermolysis Bullosa ◽  
Collagen Gene ◽  
Type Vii Collagen

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

Detection of type VII collagen gene mutations in dystrophic froms of epidermolysis bullosa patients by PCR-SSCP and PCR-RFLP analyses

1993 ◽  
Vol 6 (1) ◽  
pp. 40
Author(s):  
Yasushi Suga ◽  
Kazumi Ishidoh ◽  
Shinji Morioka ◽  
Kenji Takamori ◽  
Eiki Kominami ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Gene Mutations ◽  
Collagen Gene ◽  
Type Vii Collagen ◽  
Pcr Rflp
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