Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM(1)-gangliosidosis

OBJECTIVE: To utilize high-throughput sequencing to determine the etiology of juvenile-onset neurodegeneration in a 19-year-old woman with progressive motor and cognitive decline. METHODS: Exome sequencing identified an initial list of 133,555 variants in the proband's family, which were filter...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Mark Pierson, Tyler, Adams, David A., Markello, Thomas, Golas, Gretchen, Yang, Sandra, Sincan, Murat, Simeonov, Dimitre R., Fuentes Fajardo, Karin, Hansen, Nancy F., Cherukuri, Praveen F., Cruz, Pedro, Teer, Jamie K., Mullikin, James C., Boerkoel, Cornelius F., Gahl, William A., Tifft, Cynthia J.
Formato: Artigo
Idioma:Inglês
Publicado em: Lippincott Williams & Wilkins 2012
Assuntos:
Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3390543/
https://ncbi.nlm.nih.gov/pubmed/22675082
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0b013e31825f047a
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados