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Identification and Functional Characterization of the First Deep Intronic GLA Mutation (IVS4+1326C>T) Causing Renal Variant of Fabry Disease

2022-01-24

Abstract excerpt

<title>Abstract</title> <p><bold>Background:</bold> Fabry disease (FD, OMIM #301500) is an X-linked lysosomal disorder caused by the deficiency of α-galactosidase A (α-GalA), encoded by the <italic>GLA</italic> gene. Among more than 1100 reported <italic>GLA</italic> mutations, few were deep intronic mutations which have been linked to classic and cardiac variants of FD. <bold>Methods and results:</bold> We repor...

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Literature Corpus work
5f6a528a-512c-53ac-9629-dd221f7a2dfc
DOI
10.21203/rs.3.rs-1248505/v1
Open publication

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