p.R220L Is a Likely Pathogenic Novel GLA Gene Mutation Responsible for Fabry Disease
Fabry disease is a progressive and rare storage disease that occurs due to low or complete deficiency of lysosomal alpha galactosidase-A (α-GLA) enzyme activity. Low alpha galactosidase-A enzyme activity causes progressive accumulation of globotriaosylceramide in various tissues and organs...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
KARE Publishing
2022-05-01
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| Series: | Anatolian Journal of Cardiology |
| Online Access: | https://jag.journalagent.com/z4/download_fulltext.asp?pdir=anatoljcardiol&un=AJC-04235 |