Novel GLA Mutation Promotes Intron Inclusion Leading to Fabry Disease

Varela, P; Caldas, MM; Pesquero, JB

Pesquero, JB (reprint author), Univ Fed Sao Paulo, Ctr Res & Mol Diagnost Genet Dis, Dept Biophys, Sao Paulo, Brazil.

FRONTIERS IN GENETICS, 2019; 10 ():

Abstract

Fabry disease (FD) is a rare and underdiagnosed X-linked disorder resulting from the deficient activity of the lysosomal hydrolase alpha-galactosidase......

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