Novel missense mutation in the EDA1 gene identified in a family with hypohidrotic ectodermal dysplasia

2015 ◽  
Vol 54 (7) ◽  
pp. 790-794 ◽  
Author(s):  
Glustein Pozo-Molina ◽  
Julia Reyes-Reali ◽  
María Isabel Mendoza-Ramos ◽  
Rafael Villalobos-Molina ◽  
Efraín Garrido-Guerrero ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Ectodermal Dysplasia ◽  
Hypohidrotic Ectodermal Dysplasia

scholarly journals A rat model of hypohidrotic ectodermal dysplasia carries a missense mutation in the Edaradd gene

BMC Genetics ◽  
2011 ◽  
Vol 12 (1) ◽  
pp. 91 ◽  
Author(s):  
Takashi Kuramoto ◽  
Mayuko Yokoe ◽  
Ryoko Hashimoto ◽  
Hiroshi Hiai ◽  
Tadao Serikawa
Keyword(s):  
Missense Mutation ◽  
Rat Model ◽  
Ectodermal Dysplasia ◽  
Hypohidrotic Ectodermal Dysplasia

Hypohidrotic ectodermal dysplasia caused by a missense mutation in the EDA gene

2011 ◽  
Vol 21 (5) ◽  
pp. 801-803
Author(s):  
Atsushi Fujimoto ◽  
Muhammad Farooq ◽  
Nobuyuki Sato ◽  
Yukiko Masui ◽  
Hiroki Fujikawa ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Ectodermal Dysplasia ◽  
Hypohidrotic Ectodermal Dysplasia ◽  
Eda Gene

The novel EDAR p.L397H missense mutation causes autosomal dominant hypohidrotic ectodermal dysplasia

2016 ◽  
Vol 31 (1) ◽  
pp. e17-e20 ◽  
Author(s):  
A.K. Chaudhary ◽  
R. Mohapatra ◽  
H.A. Nagarajaram ◽  
P. Ranganath ◽  
A. Dalal ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Autosomal Dominant ◽  
Ectodermal Dysplasia ◽  
The Novel ◽  
Hypohidrotic Ectodermal Dysplasia

A Missense Mutation in the Death Domain of EDAR Abolishes the Interaction with EDARADD and Underlies Hypohidrotic Ectodermal Dysplasia

Dermatology ◽  
2011 ◽  
Vol 223 (1) ◽  
pp. 74-79 ◽  
Author(s):  
Yukiko Masui ◽  
Muhammad Farooq ◽  
Nobuyuki Sato ◽  
Atsushi Fujimoto ◽  
Hiroki Fujikawa ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Ectodermal Dysplasia ◽  
Death Domain ◽  
Hypohidrotic Ectodermal Dysplasia

scholarly journals A novel EDA1 missense mutation in X-linked hypohidrotic ectodermal dysplasia

Medicine ◽  
2020 ◽  
Vol 99 (11) ◽  
pp. e19244
Author(s):  
Xu Wang ◽  
Zhiyu Zhang ◽  
Shuo Yuan ◽  
Jiabao Ren ◽  
Hong Qu ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Ectodermal Dysplasia ◽  
Hypohidrotic Ectodermal Dysplasia

A novel missense mutation (402C → T) in exon 1 in the EDA gene in a family with X-linked hypohidrotic ectodermal dysplasia

2008 ◽  
Vol 53 (3) ◽  
pp. 205-209 ◽  
Author(s):  
Jens Michael Hertz ◽  
Karen Nørgaard Hansen ◽  
Inger Juncker ◽  
Margrethe Kjeldsen ◽  
Niels Gregersen
Keyword(s):  
Missense Mutation ◽  
Ectodermal Dysplasia ◽  
Hypohidrotic Ectodermal Dysplasia ◽  
Exon 1 ◽  
Eda Gene
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