The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: Data from individual patients and family studies
- Ferreira, S.
- Ortiz, A.
- Germain, D.P.
- Viana-Baptista, M.
- Caldeira-Gomes, A.
- Camprecios, M.
- Fenollar-Cortés, M.
- Gallegos-Villalobos, T.
- Garcia, D.
- García-Robles, J.A.
- Egido, J.
- Gutiérrez-Rivas, E.
- Herrero, J.A.
- Mas, S.
- Oancea, R.
- Péres, P.
- Salazar-Martín, L.M.
- Solera-Garcia, J.
- Alves, H.
- Garman, S.C.
- Oliveira, J.P.
Zeitschrift:
Molecular Genetics and Metabolism
ISSN: 1096-7206
Datum der Publikation: 2015
Ausgabe: 114
Nummer: 2
Seiten: 248-258
Art: Artikel