Article
Successful experience with high-risk and family screening for Fabry disease in Ninghai County, Zhejiang Province, Eastern China: genotype‒phenotype analysis of the GLA IVS4 + 919G > A variant.
BMC medical genomics - 5 Feb 2026
Ge Zhuhui, Mao Jianhua, Dai Zhangqiao, Pan Xiaodan, Lin Keqiang, Lu Zhihong, Yang Miaojuan, Lai Tingting, Zhang Huibing, Gong Huilin, Li Guangyin, Hu Zenggang
Abstract excerpt
BACKGROUND: Fabry disease is a rare and non-specific disease that is difficult and expensive to diagnose. This study aimed to investigate the clinical phenotypes and genetic characteristics of patients with Fabry disease characterised by the GLA IVS4 + 919G > A variant in China through a proposed pilot program integrating high-risk and family screening. METHODS: The 31-months-long pilot program assessed high-risk...
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