Novel missense mutation of COL7A1 in a recessive dystrophic epidermolysis bullosa patient with mild clinical phenotype

2014 ◽  
Vol 41 (10) ◽  
pp. 939-940
Author(s):  
Nagisa Yoshihara ◽  
Hajime Nakano ◽  
Daisuke Sawamura ◽  
Shigaku Ikeda
Keyword(s):  
Missense Mutation ◽  
Epidermolysis Bullosa ◽  
Clinical Phenotype ◽  
Dystrophic Epidermolysis Bullosa ◽  
Recessive Dystrophic Epidermolysis Bullosa ◽  
Mild Clinical Phenotype

scholarly journals From Clinical Phenotype to Genotypic Modelling: Incidence and Prevalence of Recessive Dystrophic Epidermolysis Bullosa (RDEB)

2019 ◽  
Vol Volume 12 ◽  
pp. 933-942
Author(s):  
Shaundra Eichstadt ◽  
Jean Y Tang ◽  
Daniel C. Solis ◽  
Zurab Siprashvili ◽  
M. Peter Marinkovich ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Clinical Phenotype ◽  
Dystrophic Epidermolysis Bullosa ◽  
Recessive Dystrophic Epidermolysis Bullosa

Recessive dystrophic epidermolysis bullosa caused by COL7A1 hemizygosity and a missense mutation with complex effects on splicing

2006 ◽  
Vol 27 (3) ◽  
pp. 291-292 ◽  
Author(s):  
Matthias Titeux ◽  
José Enrique Mejía ◽  
Luciné Mejlumian ◽  
Sylvie Bourthoumieu ◽  
Sandra Mirval ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Epidermolysis Bullosa ◽  
Dystrophic Epidermolysis Bullosa ◽  
Recessive Dystrophic Epidermolysis Bullosa

A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa

1993 ◽  
Vol 4 (1) ◽  
pp. 62-66 ◽  
Author(s):  
Angela M. Christiano ◽  
Daniel S. Greenspan ◽  
Guy G. Hoffman ◽  
Xin Zhang ◽  
Yoshiko Tamai ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Epidermolysis Bullosa ◽  
Dystrophic Epidermolysis Bullosa ◽  
Type Vii Collagen ◽  
Recessive Dystrophic Epidermolysis Bullosa
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