Publication
The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: Data from individual patients and family studies
Luis Manuel Salazar-Martín, Jesús Solera-Garcia, Helena Alves, Scott C. Garman, João Paulo Oliveira, Susana Ferreira, Alberto Ortiz, Dominique P. Germain, Miguel Viana-Baptista, António Caldeira-Gomes, Marta Camprecios, Maria Fenollar-Cortés, Ángel Gallegos-Villalobos, Diego Garcia, José Antonio García-Robles, Jesús Egido, Eduardo Gutiérrez-Rivas, José Antonio Herrero, Sebastián Mas, Raluca Oancea, Paloma Péres
Molecular Genetics and Metabolism, February 2015, Elsevier
DOI: 10.1016/j.ymgme.2014.11.004