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[Genetic and clinical study of three Chinese pedigrees with Fabry disease].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Apr 2013

Tian Mao-lu, Yan Yuan-long, Xiong Jia-chuan, Liu Xiao-xia, Yang Yuan, Hu Zhang-xue

Abstract excerpt

OBJECTIVE: Fabry disease is a rare lysosome storage disease featuring X-linked recessive inheritance. The study was to explore potential mutations of alpha-galactosidase A (GLA) gene and their correlation with clinic manifestations in three Chinese pedigrees with Fabry disease. METHODS: All exons and flanking sequences of GLA gene were amplified with PCR. Potential mutations were detected with bidirectional DNA...

Topics

Adult
Fabry Disease
Humans
Male
Middle Aged
Mutation
Pedigree
alpha-Galactosidase

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 23568732
DOI: 10.3760/cma.j.issn.1003-9406.2013.04.014

Genes

GLA

Variants

Provenance

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