A carregar...

AB043. Correction of the GLA IVS4+919 G>A mutation with CRISPR/Cas9 deletion strategy in fibroblasts of Fabry disease

BACKGROUND: Fabry disease (FD) is an X-linked inheritable lysosomal storage disease caused by genetic defects on GLA gene encoding the α-galactosidase (α-GLA) protein. Lack of α-GLA resulted in accumulation of globotriaosylceramide (Gb3) in the lysosomes, and induced clinicopathological manifestatio...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Ann Transl Med
Main Authors: Chang, Sheng-Kai, Lu, Yung-Hsiu, Chen, Yun-Ru, Hsieh, Yu-Ping, Lin, Wei-Jou, Hsu, Ting-Rong, Niu, Dau-Ming
Formato: Artigo
Idioma:Inglês
Publicado em: AME Publishing Company 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5641788/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.21037/atm.2017.s043
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!