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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4999276/
https://www.ncbi.nlm.nih.gov/pubmed/27560961
http://dx.doi.org/10.1371/journal.pone.0161330

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