Genotype-phenotype analysis of Fabry disease caused by GLA gene variation in a pedigree

Objective: To investigate the clinical phenotype and genetic characteristics of patients with Fabry disease caused by a GLA variant, IVS4+919G>A. Methods: It was a prospective study. Fabry disease screening was conducted among high-risk population in Ninghai from October 2021 to August 2023. Thos...

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Publié dans:Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 62(2024), 4 vom: 25. März, Seite 345-350
Auteur principal: Ge, Z H (Auteur)
Autres auteurs: Lu, Z H, Pan, X D, Lai, T T, Yang, M J, Yang, H Q, Zhang, H B, Li, G Y, Dai, Z Q, Mao, J H
Format: Article en ligne
Langue:Chinese
Publié: 2024
Accès à la collection:Zhonghua er ke za zhi = Chinese journal of pediatrics
Sujets:English Abstract Journal Article alpha-Galactosidase EC 3.2.1.22