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P031: Fabry disease: Genotype/phenotype correlations for 17 novel GLA mutations by GLA activity and plasma Lyso-Gb3 levels

Authors :
Neal Cody
Yu Leng Phua
Wenjiao Li
Irina Nazarenko
Brandon Stauffer
Hongjie Chen
Jing Xiao
Lisa Edelmann
Ruth Kornreich
Chunli Yu
Robert Desnick
Source :
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100041- (2023)
Publication Year :
2023
Publisher :
Elsevier, 2023.

Subjects

Subjects :
Genetics
QH426-470
Medicine

Details

Language :
English
ISSN :
29497744
Volume :
1
Issue :
1
Database :
Directory of Open Access Journals
Journal :
Genetics in Medicine Open
Publication Type :
Academic Journal
Accession number :
edsdoj.37d74187c512483592401afa96cb6ea3
Document Type :
article
Full Text :
https://doi.org/10.1016/j.gimo.2023.100041