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Article

Clinical characteristics and induced pluripotent stem cells (iPSCs) disease model of Fabry disease caused by a novel GLA mutation.

QJM : monthly journal of the Association of Physicians - 1 Aug 2024

Gao L, Lu Z, Zhang Y, Liu L, Sun J, Fu H, Mao J, Hu L

Abstract excerpt

BACKGROUND: Fabry disease (FD) is a rare X-linked inherited disease caused by mutations in the galactosidase alpha (GLA) gene. We established a cohort of FD patients and performed whole-exome sequencing to identify some novel mutations. AIM: The aim of this study is to investigate the etiology of the novel mutation (c.72G > A, p. Trp24*)in the GLA gene in affected patients by using induced pluripotent stem cells...

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alpha-Galactosidase
Exome Sequencing
Fabry Disease
Induced Pluripotent Stem Cells
Mutation

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PMID: 38429952
DOI: 10.1093/qjmed/hcae038
PMCID: PMC11389907

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