A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis
Page 1 of 1
A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis
***Zivony-Elboum Y, Westbroek W, Kfir N, Savitzki D, Shoval Y, Bloom A, Rod R, Khayat M, Gross B, Samri W, Cohen H, Sonkin V, Freidman T, Geiger D, Fattal-Valevski A, Anikster Y, Waters AM, Kleta R, Falik-Zaccai TC. A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis. J Med Genet. 2012 Jun 20. [Epub ahead of print]
alexvincent- Posts : 44
Join date : 2012-04-06
Similar topics
» New role of LRP5, associated with non-syndromic autosomal recessive hereditary hearing loss
» SLC44A4 Mutation Causes Autosomal Dominant Hereditary Postlingual Non-syndromic Mid-frequency Hearing loss
» Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa
» Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function
» A Mutation in ZNF513, a Putative Regulator of Photoreceptor Development, Causes Autosomal-Recessive Retinitis Pigmentosa
» SLC44A4 Mutation Causes Autosomal Dominant Hereditary Postlingual Non-syndromic Mid-frequency Hearing loss
» Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa
» Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function
» 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