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[Alpha-galactosidase A gene mutation in a Chinese family with Fabry disease mimicking clinical features of hypertrophic cardiomyopathy].

Zhonghua xin xue guan bing za zhi - 1 Feb 2006

Liu He-jun, Cao Ke-jiang, Li Cheng-rang, Dai Jian, Ma Ji-zheng, Yong Yong-hong, Sun Wei

Abstract excerpt

OBJECTIVE: To screen gene mutation in alpha-galactosidase A (alpha-Gal A) in a nonconsanguineous Chinese family with Fabry disease (FD) with clinical manifestations similar to hypertrophic cardiomyopathy (HCM). METHODS: Mutation analysis was performed by using purified PCR products to direct sequence analysis on an ABI-377XL automated DNA sequencer. DNA analysis of alpha-Gal A gene and physical and clinical...

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PMID: 16626582

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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