Sequencing analysis of the ITPR1 gene in a pure autosomal dominant spinocerebellar ataxia series

Spinocerebellar ataxia type 15 and 16 (SCA15/16) are autosomal dominant cerebellar ataxias that are slowly progressive with a predominantly pure ataxia phenotype (ADCA III). The locus for SCA15 was first mapped to 3p24.2–3pter and subsequently full or partial deletions in the inositol 1,4,5-triphosp...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Main Authors: van de Leemput, J, Wavrant-De Vrièze, F, Rafferty, I, Bras, JM, Giunti, P, Fisher, EMC, Hardy, J, Singleton, AB, Houlden, H
Format: Artigo
Sprog:Inglês
Udgivet: 2010
Fag:
Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2864955/
https://ncbi.nlm.nih.gov/pubmed/20437544
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mds.22970
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker