scholarly journals A Novel Splice Site Mutation in Collagen Type VII Gene in a Chinese Family with Dominant Dystrophic Epidermolysis Bullosa Pruriginosa

2002 ◽  
Vol 82 (3) ◽  
pp. 187-191 ◽  
Author(s):  
Wei Jiang ◽  
Dingfang Bu ◽  
Yong Yang ◽  
Xuejun Zhu
Keyword(s):  
Splice Site ◽  
Epidermolysis Bullosa ◽  
Collagen Type ◽  
Splice Site Mutation ◽  
Chinese Family ◽  
Site Mutation ◽  
Dystrophic Epidermolysis Bullosa ◽  
Collagen Type Vii

scholarly journals Inversa Dystrophic Epidermolysis Bullosa Is Caused by Missense Mutations at Specific Positions of the Collagenic Domain of Collagen Type VII

2010 ◽  
Vol 130 (10) ◽  
pp. 2508-2511 ◽  
Author(s):  
Christine Chiaverini ◽  
Alexandra V. Charlesworth ◽  
Monia Youssef ◽  
Jean-François Cuny ◽  
Smail H. Rabia ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Collagen Type ◽  
Missense Mutations ◽  
Dystrophic Epidermolysis Bullosa ◽  
Collagen Type Vii

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
Sign in / Sign up

Export Citation Format

Share Document