Missense mutation at the helix termination region in the 2B domain of keratin 14 in a Japanese family with epidermolysis bullosa simplex, generalized, other

2011 ◽  
Vol 50 (4) ◽  
pp. 436-438 ◽  
Author(s):  
Sakae Kaneko ◽  
Takahiro Hamada ◽  
Yuko Kawano ◽  
Takashi Hashimoto ◽  
Eishin Morita
Keyword(s):  
Missense Mutation ◽  
Epidermolysis Bullosa ◽  
Epidermolysis Bullosa Simplex ◽  
Japanese Family ◽  
Generalized Other ◽  
Keratin 14

A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex

1993 ◽  
Vol 3 (4) ◽  
pp. 327-332 ◽  
Author(s):  
A. Hovnanian ◽  
E. Pollack ◽  
L. Hilal ◽  
A. Rochat ◽  
C. Prost ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Epidermolysis Bullosa ◽  
Epidermolysis Bullosa Simplex ◽  
Keratin 14

A recurrent keratin 14 mutation in Dowling-Meara epidermolysis bullosa simplex

1999 ◽  
Vol 141 (4) ◽  
pp. 747-748 ◽  
Author(s):  
Sasaki ◽  
Shimizu ◽  
Akiyama ◽  
Hiraoka ◽  
Takizawa ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Epidermolysis Bullosa Simplex ◽  
Keratin 14

Epidermolysis bullosa simplex (Weber-Cockayne) associated with a novel missense mutation of Asp328 to val in Linker 12 domin of keratin 5

1995 ◽  
Vol 4 (10) ◽  
pp. 1999-2000 ◽  
Author(s):  
Masato Matsuki ◽  
Kohji Hashimoto ◽  
Kunihlko Yoshikawa ◽  
Hirokazu Yasuno ◽  
Kiyofuml Yamanishi
Keyword(s):  
Missense Mutation ◽  
Epidermolysis Bullosa ◽  
Epidermolysis Bullosa Simplex ◽  
Keratin 5
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