A carregar...

Rett and Rett‐like syndrome: Expanding the genetic spectrum to KIF1A and GRIN1 gene

BACKGROUND: This study aimed to investigate the new genetic etiologies of Rett syndrome (RTT) or Rett‐like phenotypes. METHODS: Targeted next‐generation sequencing (NGS) was performed on 44 Chinese patients with RTT or Rett‐like phenotypes, in whom genetic analysis of MECP2, CDKL5, and FOXG1 was neg...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Wang, Jiaping, Zhang, Qingping, Chen, Yan, Yu, Shujie, Wu, Xiru, Bao, Xinhua
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6825848/
https://ncbi.nlm.nih.gov/pubmed/31512412
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.968
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!