Japanese case of Bothnian-type palmoplantar keratoderma with a novel missense mutation of p.Trp35Ser in extracellular loop A of aquaporin-5

2018 ◽  
Vol 46 (3) ◽  
pp. e104-e106
Author(s):  
Yoshihiro Wada ◽  
Minori Kusakabe ◽  
Makoto Nagai ◽  
Yasutomo Imai ◽  
Kiyofumi Yamanishi
Keyword(s):  
Missense Mutation ◽  
Extracellular Loop ◽  
Palmoplantar Keratoderma ◽  
Aquaporin 5 ◽  
Japanese Case

Novel KRT9 missense mutation in a Japanese case of epidermolytic palmoplantar keratoderma

2017 ◽  
Vol 45 (4) ◽  
pp. e72-e73 ◽  
Author(s):  
Yoshie Fukunaga ◽  
Akiharu Kubo ◽  
Takashi Sasaki ◽  
Daisuke Tsuruta ◽  
Kazuyoshi Fukai
Keyword(s):  
Missense Mutation ◽  
Palmoplantar Keratoderma ◽  
Japanese Case

Autosomal dominant diffuse nonepidermolytic palmoplantar keratoderma due to a recurrent mutation in aquaporin-5

2015 ◽  
Vol 174 (2) ◽  
pp. 430-432 ◽  
Author(s):  
A. Abdul-Wahab ◽  
T. Takeichi ◽  
L. Liu ◽  
D. Lomas ◽  
B. Hughes ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Recurrent Mutation ◽  
Palmoplantar Keratoderma ◽  
Aquaporin 5

scholarly journals A Novel Missense Mutation in the Second Extracellular Domain of GJB2, p.Ser183Phe, Causes a Syndrome of Focal Palmoplantar Keratoderma with Deafness

2008 ◽  
Vol 173 (4) ◽  
pp. 1113-1119 ◽  
Author(s):  
Eugene A. de Zwart-Storm ◽  
Michel van Geel ◽  
Pierre A.F.A. van Neer ◽  
Peter M. Steijlen ◽  
Patricia E. Martin ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Extracellular Domain ◽  
Palmoplantar Keratoderma

scholarly journals Striate palmoplantar keratoderma resulting from a missense mutation in DSG1

2018 ◽  
Vol 179 (3) ◽  
pp. 755-757 ◽  
Author(s):  
D. Vodo ◽  
E.A. O'Toole ◽  
N. Malchin ◽  
A. Lahav ◽  
N. Adir ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Palmoplantar Keratoderma

A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness

2007 ◽  
Vol 45 (3) ◽  
pp. 161-166 ◽  
Author(s):  
E A de Zwart-Storm ◽  
H Hamm ◽  
J Stoevesandt ◽  
P M Steijlen ◽  
P E Martin ◽  
...  
Keyword(s):  
Gap Junction ◽  
Missense Mutation ◽  
Protein Transport ◽  
Palmoplantar Keratoderma ◽  
Junction Protein ◽  
Gap Junction Protein

scholarly journals 773 Striate palmoplantar keratoderma resulting from a missense mutation in DSG1

2018 ◽  
Vol 138 (5) ◽  
pp. S131
Author(s):  
D. Vodo ◽  
E. O'Toole ◽  
N. Malchin ◽  
A. Lahav ◽  
N. Adir ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Palmoplantar Keratoderma

scholarly journals Mutation in AQP5, Encoding Aquaporin 5, Causes Palmoplantar Keratoderma Bothnia Type

2014 ◽  
Vol 134 (1) ◽  
pp. 284-287 ◽  
Author(s):  
Xu Cao ◽  
Jinghua Yin ◽  
Huijun Wang ◽  
Jiahui Zhao ◽  
Jie Zhang ◽  
...  
Keyword(s):  
Palmoplantar Keratoderma ◽  
Aquaporin 5
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