Patrícia Varela Myrtes Martins Caldas João Bosco Pesquero
10.3389/fgene.2019.00783
Front Genet
2019 Sep 27;10:783.
fabry disease gla gene intron inclusion splice site mutation α-galactosidase a
CC BY
https://pubmed.ncbi.nlm.nih.gov/31611903/
Case Reports
PMC6777637
31611903
Novel GLA Mutation Promotes Intron Inclusion Leading to Fabry Disease
2019