Renal, cardiac, and neurologic disease in a patient with Fabry disease, hemizygous for the c.639+5G>C intronic variant in the galactosidase alpha (GLA) gene.
José Pedro L Nunes, Ricardo Soares-Dos-Reis, Maria do Sameiro Faria, Elisabete Martins, Teresa Pinho, João Rebelo, Rute N Fonseca, Martin Balboa López, Susana Ferreira, João Paulo Oliveira
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