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...
Ausführliche Beschreibung
Bibliographische Detailangaben
| Veröffentlicht in: | Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 62(2024), 4 vom: 25. März, Seite 345-350
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| 1. Verfasser: |
Ge, Z H
(VerfasserIn) |
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| Weitere Verfasser: |
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 |
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| Format: | Online-Aufsatz
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| Sprache: | Chinese |
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| Veröffentlicht: |
2024
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| Zugriff auf das übergeordnete Werk: | Zhonghua er ke za zhi = Chinese journal of pediatrics
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| Schlagworte: | English Abstract
Journal Article
alpha-Galactosidase
EC 3.2.1.22 |
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