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Article

A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance.

Journal of medical genetics - 1 Jan 2014

van der Tol L, Smid B E, Poorthuis B J H M, Biegstraaten M, Deprez R H Lekanne, Linthorst G E, Hollak C E M

Abstract excerpt

Screening for Fabry disease (FD) reveals a high prevalence of individuals with α-galactosidase A (GLA) genetic variants of unknown significance (GVUS). These individuals often do not express characteristic features of FD. A systematic review on FD screening studies was performed to interpret the significance of GLA gene variants and to calculate the prevalence of definite classical and uncertain cases. We...

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Identifiers

PMID: 23922385
DOI: 10.1136/jmedgenet-2013-101857

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GLA

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