The c.-265G>A GLA gene promoter variant causes Fabry disease: The hidden culprit identified.

Authors :: Zampieri S
Cattarossi S
Ferri L
Graziano C
Santostefano M
Morrone A
Dardis A
Source :: Clinical genetics [Clin Genet] 2024 Nov; Vol. 106 (5), pp. 661-663. Date of Electronic Publication: 2024 Jul 18.
Publication Year :: 2024
Abstract: Here, we report the identification and functional characterization of a novel GLA variant, not detectable by routine molecular tests, in a family with FD suspicion.<br /> (© 2024 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

Subjects :: Humans
Male
Female
Mutation genetics
Adult
Genetic Predisposition to Disease
Middle Aged
Fabry Disease genetics
Fabry Disease diagnosis
alpha-Galactosidase genetics
Promoter Regions, Genetic genetics
Pedigree

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