Splice site mutation in COL7A1 resulting in aberrant in-frame transcripts identified in a case of recessive dystrophic epidermolysis bullosa, pretibial

2018 ◽  
Vol 45 (6) ◽  
pp. 742-745 ◽  
Author(s):  
Takuji Masunaga ◽  
Akiharu Kubo ◽  
Akira Ishiko
Keyword(s):  
Splice Site ◽  
Epidermolysis Bullosa ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Dystrophic Epidermolysis Bullosa ◽  
Recessive Dystrophic Epidermolysis Bullosa

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

scholarly journals Revertant Mosaicism Due to a Second-Site Mutation in COL7A1 in a Patient with Recessive Dystrophic Epidermolysis Bullosa

2010 ◽  
Vol 130 (10) ◽  
pp. 2407-2411 ◽  
Author(s):  
Anna M.G. Pasmooij ◽  
Marta Garcia ◽  
Maria J. Escamez ◽  
A. Miranda Nijenhuis ◽  
Antoni Azon ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Site Mutation ◽  
Dystrophic Epidermolysis Bullosa ◽  
Recessive Dystrophic Epidermolysis Bullosa
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