Title : A Novel α-Galactosidase A Splicing Mutation Predisposes to Fabry Disease.

Pub. Date : 2019

PMID : 30853972






1 Functional Relationships(s)
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1 Fabry disease (FD) is a rare X-linked alpha-galactosidase A (GLA) deficiency, resulting in progressive lysosomal accumulation of globotriaosylceramide (Gb3) in a variety of cell types. globotriaosylceramide alpha 1,4-galactosyltransferase (P blood group) Homo sapiens