Loading...

Novel Autosomal Recessive c10orf2 Mutations Causing Infantile-Onset Spinocerebellar Ataxia

Recessive mutations in genes encoding mitochondrial DNA replication machinery lead to mitochondrial DNA depletion syndromes. This genetically and phenotypically heterogeneous group includes infantile onset spinocerebellar ataxia (OMIM# 271245) a neurodegenerative disease caused by mutations in the m...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Main Authors: Hartley, Jessica N., Booth, Frances A., Del Bigio, Marc R., Mhanni, Aizeddin A.
Format: Artigo
Sprog:Inglês
Udgivet: Hindawi Publishing Corporation 2012
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3424653/
https://ncbi.nlm.nih.gov/pubmed/22928142
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2012/303096
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!