Functional evaluation of a novel GLA causative mutation in Fabry disease
Functional evaluation of a novel GLA causative mutation in Fabry disease
About this item
Full title
Author / Creator
Li, Ping , Zhang, Lijuan , Xiong, Qiuhong , Wang, Zhe , Cui, Xiaodong , Zhou, Yong‐An , Wang, Yuxian , Xiao, Han and Wu, Changxin
Publisher
United States: John Wiley & Sons, Inc
Journal title
Language
English
Formats
Publication information
Publisher
United States: John Wiley & Sons, Inc
Subjects
More information
Scope and Contents
Contents
Background
Fabry disease (FD), a rare X‐linked α‐galactosidase A (GLA) deficiency, resulting in progressive lysosomal accumulation of globotriaosylceramide in a variety of cell types. More and more disease‐causing mutations in GLA have been identified in FD due to the advancement of molecular diagnostic tools. We found a novel mutation in a Chin...
Alternative Titles
Full title
Functional evaluation of a novel GLA causative mutation in Fabry disease
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_aed2691ac3de4f548a793657fc9c6acb
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_aed2691ac3de4f548a793657fc9c6acb
Other Identifiers
ISSN
2324-9269
E-ISSN
2324-9269
DOI
10.1002/mgg3.864
