A novel threonine to proline mutation in the helix termination motif of keratin 1 in epidermolytic hyperkeratosis with severe palmoplantar hyperkeratosis and contractures of the digits

2005 ◽  
Vol 152 (5) ◽  
pp. 1087-1089 ◽  
Author(s):  
S. Muramatsu ◽  
Y. Suga ◽  
Y. Mizuno ◽  
T. Hasegawa ◽  
H. Tsuchihashi ◽  
...  
Keyword(s):  
Palmoplantar Hyperkeratosis ◽  
Epidermolytic Hyperkeratosis ◽  
Keratin 1

Extremely severe palmoplantar hyperkeratosis in a generalized epidermolytic hyperkeratosis patient with a keratin 1 gene mutation

2011 ◽  
Vol 64 (5) ◽  
pp. 991-993 ◽  
Author(s):  
Rinko Osawa ◽  
Masashi Akiyama ◽  
Kentaro Izumi ◽  
Hideyuki Ujiie ◽  
Kaori Sakai ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Palmoplantar Hyperkeratosis ◽  
Epidermolytic Hyperkeratosis ◽  
Keratin 1

scholarly journals Epidermolytic hyperkeratosis: a keratin 1 or 10 mutational event

2005 ◽  
Vol 44 (1) ◽  
pp. 1-6 ◽  
Author(s):  
Nicole L. Lacz ◽  
Robert A. Schwartz ◽  
George Kihiczak
Keyword(s):  
Mutational Event ◽  
Epidermolytic Hyperkeratosis ◽  
Keratin 1

A novel glutamic acid to aspartic acid mutation in the end of 2B rod domain in the keratin 1 gene in epidermolytic hyperkeratosis

1998 ◽  
Vol 16 ◽  
pp. S145
Author(s):  
Eil-Soo Lee ◽  
Hae-Jun Song ◽  
Jeung-Hoon Lee ◽  
Peter M Steinert ◽  
Jun-Mo Yang
Keyword(s):  
Glutamic Acid ◽  
Aspartic Acid ◽  
Epidermolytic Hyperkeratosis ◽  
Keratin 1

scholarly journals Keratin 1 Gene Mutation Detected in Epidermal Nevus with Epidermolytic Hyperkeratosis

2007 ◽  
Vol 127 (6) ◽  
pp. 1371-1374 ◽  
Author(s):  
Akiko Tsubota ◽  
Masashi Akiyama ◽  
Kaori Sakai ◽  
Maki Goto ◽  
Yukiko Nomura ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Epidermal Nevus ◽  
Epidermolytic Hyperkeratosis ◽  
Keratin 1

A sporadic case of epidermolytic hyperkeratosis caused by a novel point mutation in the keratin 1 gene

2006 ◽  
Vol 31 (2) ◽  
pp. 286-287 ◽  
Author(s):  
Y. Shimomura ◽  
N. Sato ◽  
K. Tomiyama ◽  
A. Takahashi ◽  
M. Ito
Keyword(s):  
Point Mutation ◽  
Sporadic Case ◽  
Epidermolytic Hyperkeratosis ◽  
Keratin 1

Keratin 1 and keratin 10 mutations causing epidermolytic hyperkeratosis in Chinese patients

2002 ◽  
Vol 29 (3) ◽  
pp. 195-200 ◽  
Author(s):  
Xiukun Sun ◽  
Linglei Ma ◽  
Yanqiu Xie ◽  
Xuejun Zhu
Keyword(s):  
Chinese Patients ◽  
Epidermolytic Hyperkeratosis ◽  
Keratin 1

scholarly journals A Mouse Keratin 1 Mutation Causes Dark Skin and Epidermolytic Hyperkeratosis

2006 ◽  
Vol 126 (5) ◽  
pp. 1013-1016 ◽  
Author(s):  
Kelly A. McGowan ◽  
Swaroop Aradhya ◽  
Helmut Fuchs ◽  
Martin H. de Angelis ◽  
Gregory S. Barsh
Keyword(s):  
Dark Skin ◽  
Epidermolytic Hyperkeratosis ◽  
Keratin 1

scholarly journals A Novel H1 Mutation in the Keratin 1 Chain in Epidermolytic Hyperkeratosis

1996 ◽  
Vol 107 (3) ◽  
pp. 439-441 ◽  
Author(s):  
Jun-Mo Yang ◽  
Kiebang Nam ◽  
Ki-Beom Park ◽  
Won-Serk Kim ◽  
Kee-Chan Moon ◽  
...  
Keyword(s):  
Epidermolytic Hyperkeratosis ◽  
Keratin 1
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