Article
The Fabry disease-causing mutation, GLA IVS4+919G>A, originated in Mainland China more than 800 years ago.
Journal of human genetics - 1 Jul 2020
Liang Kung-Hao, Lu Yung-Hsiu, Niu Chih-Wei, Chang Sheng-Kai, Chen Yun-Ru, Cheng Chih-Ya, Hsu Ting-Rong, Yang Chia-Feng, Nakamura Kimitoshi, Niu Dau-Ming
Abstract excerpt
The Fabry disease-causing mutation, the GLA IVS4+919G>A (designated GLA IVS4), is very prevalent in patients with hypertrophic cardiomyopathy in Taiwan. This X-linked mutation has also been found in patients in Kyushu, Japan and Southeast Asia. To investigate the age and the possible ancestral origin of this mutation, a total of 33 male patients with the GLA IVS4+919G>A mutation, born in Taiwan, Japan, Singapore,...
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