scholarly journals Modulation of disease severity of dystrophic epidermolysis bullosa by a splice site mutation in combination with a missense mutation in the COL7A1 gene

1997 ◽  
Vol 6 (7) ◽  
pp. 1125-1135 ◽  
Author(s):  
J. Winberg
Keyword(s):  
Missense Mutation ◽  
Disease Severity ◽  
Splice Site ◽  
Epidermolysis Bullosa ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Dystrophic Epidermolysis Bullosa ◽  
Col7a1 Gene

A de novo COL17A1 splice-site mutation causing a 7-bp deletion in a Taiwanese patient with junctional epidermolysis bullosa

2021 ◽  
Vol 31 (2) ◽  
pp. 267-269
Author(s):  
Ping-Chen Hou ◽  
Wei-Ting Tu ◽  
Peng-Chieh Chen ◽  
Bryan Edgar K. Guevara ◽  
Yu-Fen Yen ◽  
...  
Keyword(s):  
Splice Site ◽  
Epidermolysis Bullosa ◽  
De Novo ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Junctional Epidermolysis Bullosa ◽  
Taiwanese Patient
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