An asparagine to threonine substitution in the 1A domain of keratin 1: a novel mutation that causes epidermolytic hyperkeratosis

1999 ◽  
Vol 8 (2) ◽  
pp. 124-127 ◽  
Author(s):  
M. J. Arin ◽  
M. A. Longley ◽  
W. Küster ◽  
M. Huber ◽  
D. Hohl ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Epidermolytic Hyperkeratosis ◽  
Keratin 1

Identification of a novel mutation in keratin 1 in a family with epidermolytic hyperkeratosis

2000 ◽  
Vol 9 (1) ◽  
pp. 16-19 ◽  
Author(s):  
M. J. Arin ◽  
M. A. Longley ◽  
E. H. Epstein ◽  
J. A. Rothnagel ◽  
D. R. Roop
Keyword(s):  
Novel Mutation ◽  
Epidermolytic Hyperkeratosis ◽  
Keratin 1

A novel mutation of the keratin 1 gene in a family with epidermolytic hyperkeratosis

2006 ◽  
Vol 43 (2) ◽  
pp. 143-145
Author(s):  
Yan Liu ◽  
Xiaobing Lei ◽  
Zhen-Hui Peng ◽  
Sheng-Xiang Xiao ◽  
Junmin Wang ◽  
...  
Keyword(s):  
Novel Mutation ◽  
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

Novel mutation of the KRT 10 gene in a Japanese patient with epidermolytic hyperkeratosis

2011 ◽  
Vol 39 (1) ◽  
pp. 87-89 ◽  
Author(s):  
Teruhiko MAKINO ◽  
Megumi FURUICHI ◽  
Yukie ASANO ◽  
Tadamichi SHIMIZU
Keyword(s):  
Japanese Patient ◽  
Novel Mutation ◽  
Epidermolytic Hyperkeratosis

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
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