Article
Genotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease.
PloS one - 1 Jan 2016
Pan Xiaoxia, Ouyang Yan, Wang Zhaohui, Ren Hong, Shen Pingyan, Wang Weiming, Xu Yaowen, Ni Liyan, Yu Xialian, Chen Xiaonong, Zhang Wen, Yang Li, Li Xiao, Xu Jing, Chen Nan
Abstract excerpt
Numerous α-galactosidase A (α-gal A) gene (GLA) mutations have been identified in Fabry disease (FD), but studies on genotype-phenotype correlation are limited. This study evaluated the features of GLA gene mutations and genotype-phenotype relationship in Chinese FD patients. Gene sequencing results, demographic information, clinical history, and laboratory findings were collected from 73 Chinese FD patients....
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