Copy-number variation of the neuronal glucose transporter gene SLC2A3 and age of onset in Huntington's disease

Huntington's disease (HD) is a devastating neurodegenerative disorder which is inherited in an autosomal dominant manner. HD is caused by a trinucleotide CAG repeat expansion that encodes a polyglutamine stretch in the huntingtin (HTT) protein. Mutant HTT expression leads to a myriad of cellula...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Vittori, Angelica, Breda, Carlo, Repici, Mariaelena, Orth, Michael, Roos, Raymund A.C., Outeiro, Tiago F., Giorgini, Flaviano, Hollox, Edward J.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2014
Assuntos:
Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4030768/
https://ncbi.nlm.nih.gov/pubmed/24452335
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddu022
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados