Recurrent p.N767S mutation in the ATP2A2 gene in a Japanese family with haemorrhagic Darier disease clinically mimicking epidermolysis bullosa simplex with mottled pigmentation

2007 ◽  
Vol 157 (3) ◽  
pp. 605-608 ◽  
Author(s):  
T. Hamada ◽  
S. Yasumoto ◽  
T. Karashima ◽  
N. Ishii ◽  
H. Shimada ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Epidermolysis Bullosa Simplex ◽  
Japanese Family ◽  
Darier Disease ◽  
Atp2a2 Gene

The P25L mutation in the KRT5 gene in a Japanese family with epidermolysis bullosa simplex with mottled pigmentation

2004 ◽  
Vol 150 (3) ◽  
pp. 609-611 ◽  
Author(s):  
T. Hamada ◽  
N. Ishii ◽  
Y. Kawano ◽  
Y. Takahashi ◽  
M. Inoue ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Epidermolysis Bullosa Simplex ◽  
Japanese Family

Natural course of epidermolysis bullosa simplex with mottled pigmentation in a Japanese family with the p.P25L mutation in KRT 5

2019 ◽  
Vol 46 (7) ◽  
Author(s):  
Ken Okamura ◽  
Satoshi Fukushima ◽  
Junji Yamashita ◽  
Yuko Abe ◽  
Masahiro Hayashi ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Natural Course ◽  
Epidermolysis Bullosa Simplex ◽  
Japanese Family
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