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...

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Vydáno v:Ann Transl Med
Hlavní autoři: Chang, Sheng-Kai, Lu, Yung-Hsiu, Chen, Yun-Ru, Hsieh, Yu-Ping, Lin, Wei-Jou, Hsu, Ting-Rong, Niu, Dau-Ming
Médium: Artigo
Jazyk:Inglês
Vydáno: AME Publishing Company 2017
Témata:
Therapeutic Methods, Treatment of Genetic Diseases
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5641788/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.21037/atm.2017.s043
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