Wordt geladen...

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...

Volledige beschrijving

Bewaard in:
Bibliografische gegevens
Hoofdauteurs: Hartley, Jessica N., Booth, Frances A., Del Bigio, Marc R., Mhanni, Aizeddin A.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Hindawi Publishing Corporation 2012
Onderwerpen:
Online toegang: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: Voeg label toe
Geen labels, Wees de eerste die dit record labelt!