AB171. RNA alternative splicing modulator can effectively increase lymphoblast enzyme activity in patients with cardiac fabry disease caused by IVS4+919G >A mutation

BACKGROUND: In Taiwan, DNA-based newborn screening showed a surprisingly high incidence (1/875 in males and 1/399 in females) of a cardiac fabry mutation (IVS4 + 919G >A). The common cardiac variant fabry mutation, IVS4+919G >A, affects the splicing of GLA RNA by introducing a 57-nucleotide in...

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Vydáno v:Ann Transl Med
Hlavní autoři: Lu, Yung-Hsiu, Li, Cheng-Fang, Huang, Chun-Kai, Lin, Yu-Ting, Hsu, Ting-Rong, Niu, Dau-Ming
Médium: Artigo
Jazyk:Inglês
Vydáno: AME Publishing Company 2015
Témata:
Part 4: Oral/poster
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4563428/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3978/j.issn.2305-5839.2015.AB171
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