Functional evaluation of a novel GLA causative mutation in Fabry disease-Reference-Cited by-同舟云学术

Functional evaluation of a novel GLA causative mutation in Fabry disease

Published:2019-07-18 Issue:9 Volume:7 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Li Ping¹^ORCID,Zhang Lijuan¹,Xiong Qiuhong¹^ORCID,Wang Zhe²,Cui Xiaodong³,Zhou Yong‐An⁴,Wang Yuxian²,Xiao Han¹,Wu Changxin¹

Affiliation:

1. Institutes of Biomedical Sciences Shanxi University Taiyuan China

2. Department of Obstetrics and Gynecology The First Hospital, Shanxi Medical University Taiyuan China

3. Key Laboratory of Chemical Biology and Molecular Engineering of Ministry of Education, Institute of Biotechnology Shanxi University Taiyuan China

4. The Second Hospital, Shanxi Medical University Bluttransfusion Taiyuan China

Funder

Shanxi Province Science Foundation for Youths

National Natural Science Foundation of China

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.864

Reference31 articles.

1. Fabry disease: twenty novel α-galactosidase A mutations causing the classical phenotype

2. Fabry disease: Twenty‐two novel mutations in the alpha‐galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes;Ashton‐Prolla P.;Journal of Investigative Medicine,2000

3. A sensitive mutation screening strategy for Fabry disease: Detection of nine mutations in the α-galactosidase A gene

4. Fabry disease: 20 novel GLA mutations in 35 families

5. Fabry Disease, an Under-Recognized Multisystemic Disorder: Expert Recommendations for Diagnosis, Management, and Enzyme Replacement Therapy

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