Genotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease.

Genotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease.

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...

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Bibliographic Details
Main Authors: Xiaoxia Pan, Yan Ouyang, Zhaohui Wang, Hong Ren, Pingyan Shen, Weiming Wang, Yaowen Xu, Liyan Ni, Xialian Yu, Xiaonong Chen, Wen Zhang, Li Yang, Xiao Li, Jing Xu, Nan Chen
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2016-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC4999276?pdf=render

Internet

http://europepmc.org/articles/PMC4999276?pdf=render

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