Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function
Page 1 of 1
Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function
Mendoza-Ferreira N, Coutelier M, Janzen E, Hosseinibarkooie S, Löhr H, Schneider S, Milbradt J, Karakaya M, Riessland M, Pichlo C, Torres-Benito L, Singleton A, Zuchner S, Brice A, Durr A, Hammerschmidt M, Stevanin G, Wirth B. Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function. Neurol Genet. 2018 Jan 19;4(1):e209. doi: 10.1212/NXG.0000000000000209. eCollection 2018 Feb.
Similar topics
» A mutation in the RNF170 gene causes autosomal dominant sensory ataxia
» Homozygous splice mutation in CWF19L1 in a Turkish family with recessive ataxia syndrome
» A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis
» Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa
» A Mutation in ZNF513, a Putative Regulator of Photoreceptor Development, Causes Autosomal-Recessive Retinitis Pigmentosa
» Homozygous splice mutation in CWF19L1 in a Turkish family with recessive ataxia syndrome
» A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis
» Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa
» A Mutation in ZNF513, a Putative Regulator of Photoreceptor Development, Causes Autosomal-Recessive Retinitis Pigmentosa
Page 1 of 1
Permissions in this forum:
You cannot reply to topics in this forum
|
|