Genomic investigation of α-Synuclein multiplication and parkinsonism

OBJECTIVE: Copy number variation is a common polymorphic phenomenon within the human genome. While the majority of these events are non-deleterious they can also be highly pathogenic. Herein we characterize five families with parkinsonism that have been identified to harbor multiplication of the chr...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Ross, Owen A., Braithwaite, Adam T., Skipper, Lisa M., Kachergus, Jennifer, Hulihan, Mary M., Middleton, Frank A., Nishioka, Kenya, Fuchs, Julia, Gasser, Thomas, Maraganore, Demetrius M., Adler, Charles H., Larvor, Lydie, Chartier-Harlin, Marie-Christine, Nilsson, Christer, Langston, J. William, Gwinn, Katrina, Hattori, Nobutaka, Farrer, Matthew J.
Formato: Artigo
Idioma:Inglês
Publicado em: 2008
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3850281/
https://ncbi.nlm.nih.gov/pubmed/18571778
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ana.21380
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados