Genotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease-Reference-Cited by-同舟云学术

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

Published:2016-08-25 Issue:8 Volume:11 Page:e0161330
ISSN:1932-6203
Container-title:PLOS ONE
language:en
Short-container-title:PLoS ONE

Author:

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

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

Reference38 articles.

1. Fabry disease;DP Germain;Orphanet J Rare Dis,2010

2. Structural organization of the human alpha-galactosidase A gene: further evidence for the absence of a 3' untranslated region;DF Bishop;Proc Natl Acad Sci U S A,1988

3. Assignment of alpha-galactosidase (alpha GAL) to the q22 leads to qter region of the X chromosome in man;TB Shows;Cytogenet Cell Genet,1978

4. Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene;L Ferri;Clin Genet,2012

5. New mutations in the GLA gene in Brazilian families with Fabry disease;LT Turaca;J Hum Genet,2012

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