The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: Data from individual patients and family studies

Author:

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

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference53 articles.

1. α-Galactosidase A deficiency: Fabry disease;Desnick,2001

2. The molecular defect leading to Fabry disease: structure of human alpha-galactosidase;Garman;J. Mol. Biol.,2004

3. Fabry disease;Germain;Orphanet J. Rare Dis.,2010

4. Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry;Wilcox;Mol. Genet. Metab.,2008

5. Molecular genetics of Fabry disease and genotype–phenotype correlation;Gal,2010

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