The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: Data from individual patients and family studies
| Autor: | Ferreira, Susana, Ortiz, Alberto, Germain, Dominique P., Viana-Baptista, Miguel, Caldeira-Gomes, António, Camprecios, Marta, Fenollar-Cortés, Maria, Gallegos-Villalobos, Ángel, Garcia, Diego, García-Robles, José Antonio, Egido, Jesús, Gutiérrez-Rivas, Eduardo, Herrero, José Antonio, Mas, Sebastián, Oancea, Raluca, Péres, Paloma, Salazar-Martín, Luis Manuel, Solera-Garcia, Jesús, Alves, Helena, Garman, Scott C., Oliveira, João Paulo |
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| Zdroj: | In Molecular Genetics and Metabolism February 2015 114(2):248-258 |
| Databáze: | ScienceDirect |
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