A carregar...

Mutation in SNAP25 as a novel genetic cause of epilepsy and intellectual disability

Whole exome sequencing using a parent-child trio design to identify de novo mutations provides an efficient method to identify novel genes for rare diseases with low reproductive fitness that are difficult to study by more classical genetic methods of linkage analysis. We describe a 15 y old female...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Rohena, Luis, Neidich, Julie, Truitt Cho, Megan, Gonzalez, Kelly DF, Tang, Sha, Devinsky, Orrin, Chung, Wendy K
Formato: Artigo
Idioma:Inglês
Publicado em: Landes Bioscience 2013
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3932847/
https://ncbi.nlm.nih.gov/pubmed/25003006
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4161/rdis.26314
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!