[Two novel mutations of GLA gene in Chinese patients with Fabry disease].

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[Two novel mutations of GLA gene in Chinese patients with Fabry disease].

Zhonghua xin xue guan bing za zhi - 1 Mar 2007

An Gui-peng, An Feng-shuang, Zhang Yun, Zou Yong-xin, Zhang Cheng, Jiang Hong, Feng Jin-bo, Wang Rong

Abstract excerpt

OBJECTIVE: To observe the disease-causing GLA gene mutations in Chinese patients with Fabry disease and the correlation between the genotype and phenotype. METHODS: DNA from 2 Chinese patients with Fabry disease and their relatives were collected. The seven exons and nonjunctional regions of GLA gene were amplified with polymerase chain reaction and the products were sequenced. The correlation between the...

Topics

Adolescent
Adult
Asian People
Base Sequence
Case-Control Studies
DNA Mutational Analysis
Fabry Disease
Female
Genes
Genotype
Humans
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Middle Aged

Mutation

Pedigree

Phenotype

Young Adult

alpha-Galactosidase

Source

Open in PubMed

Identifiers

PMID: 17582282

Genes

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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