Facultad de Ciencias de la Salud
Fakultatea
Hospital de São João
Oporto, PortugalHospital de São João-ko ikertzaileekin lankidetzan egindako argitalpenak (1)
2015
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The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: Data from individual patients and family studies
Molecular Genetics and Metabolism, Vol. 114, Núm. 2, pp. 248-258