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

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

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

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 A Missense Mutation in the Extracellular Domain of αENaC Causes Liddle Syndrome

2017 ◽  
Vol 28 (11) ◽  
pp. 3291-3299 ◽  
Author(s):  
Mahdi Salih ◽  
Ivan Gautschi ◽  
Miguel X. van Bemmelen ◽  
Michael Di Benedetto ◽  
Alice S. Brooks ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Extracellular Domain ◽  
Liddle Syndrome

scholarly journals The C264Y Missense Mutation in the Extracellular Domain of L1 Impairs Protein TraffickingIn VitroandIn Vivo

2003 ◽  
Vol 23 (1) ◽  
pp. 277-286 ◽  
Author(s):  
Annette E. Rünker ◽  
Udo Bartsch ◽  
Klaus-Armin Nave ◽  
Melitta Schachner
Keyword(s):  
Missense Mutation ◽  
Extracellular Domain

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
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