A novel heterozygous missense mutation of DSP in a Chinese Han pedigree with palmoplantar keratoderma

2018 ◽  
Vol 18 (1) ◽  
pp. 371-376
Author(s):  
Ke Xue ◽  
Yajie Zheng ◽  
Yong Cui
Keyword(s):  
Missense Mutation ◽  
Palmoplantar Keratoderma ◽  
Chinese Han ◽  
Heterozygous Missense Mutation

Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma

1998 ◽  
Vol 103 (4) ◽  
pp. 393-399 ◽  
Author(s):  
Gabriela Richard ◽  
Thomas W. White ◽  
Lisa E. Smith ◽  
Regina A. Bailey ◽  
John G. Compton ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Palmoplantar Keratoderma ◽  
Heterozygous Missense Mutation ◽  
Functional Defects

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
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