Biallelic CHP1 mutation causes human autosomal recessive...

Neurology: Genetics 2018 / 02 Vol. 4; Iss. 1

Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function

Mendoza-Ferreira, Natalia, Coutelier, Marie, Janzen, Eva, Hosseinibarkooie, Seyyedmohsen, Löhr, Heiko, Schneider, Svenja, Milbradt, Janine, Karakaya, Mert, Riessland, Markus, Pichlo, Christian, Torres
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Volume:
4
Language:
english
Journal:
Neurology Genetics
DOI:
10.1212/NXG.0000000000000209
Date:
February, 2018
File:
PDF, 1.25 MB
english, 2018
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