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