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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

2025-05-07

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<title>Abstract</title> <p> Background This study aimed to conduct high-risk and family screening for patients and to investigate the clinical phenotypes and genetic characteristics of patients with Fabry disease caused by the <italic>GLA</italic> IVS4 + 919G > A variant in China. Methods In a 31-month study, a pilot program was designed to assess high-risk screening for Fabry disease in 388 patients by meas...

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Literature Corpus work
b6f63b58-4a80-5937-88ea-517ad6e6f056
DOI
10.21203/rs.3.rs-6363208/v1
Open publication

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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&gt;A VariantDOI 10.21203/rs.3.rs-6363208/v1
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