p.R220L Is a Likely Pathogenic Novel GLA Gene Mutation Responsible for Fabry Disease
Anatol J Cardiol
.
2022 May;26(5):411-413.
doi: 10.5152/AnatolJCardiol.2021.393.
Authors
Hasan Ali Barman
1
,
Adem Atıcı
1
,
Serhan Özyıldırım
1
,
Serdar Ceylaner
2
,
Memduh Dursun
3
,
Sait Mesut Doğan
1
Affiliations
1
Department of Cardiology, İstanbul University-Cerrahpaşa, Institute of Cardiology, İstanbul, Turkey.
2
Department of Medical Genetics, Intergen Genetic Centre, Ankara, Turkey.
3
Department of Radiology, İstanbul Faculty of Medicine, İstanbul University, İstanbul, Turkey.
PMID:
35552179
PMCID:
PMC9366415
DOI:
10.5152/AnatolJCardiol.2021.393
No abstract available
MeSH terms
Fabry Disease* / diagnosis
Fabry Disease* / genetics
Humans
Mutation
Phenotype
alpha-Galactosidase / genetics
Substances
alpha-Galactosidase