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

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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

DOI Full Paper Access

88

Citations

47

References

2014

Year

Susana Ferreira, Alberto Ortíz, Dominique P. Germain, Miguel Viana‐Baptista, António Caldeira-Gomes, Marta Campreciós, María Fenollar‐Cortés, Ángel Gallegos-Villalobos, Diego A. García, José Antonio García-Robles,

Molecular Genetics and Metabolism

Family StudiesIndividual PatientsMendelian DisorderAutoimmune DiseaseGenetic DisorderGeneticsGenetic EpidemiologyPathologyMolecular GeneticsMedical GeneticsDisease Gene IdentificationFabry Disease PhenotypePublic HealthMedicineClinical Genetics

References

	Year	Citations

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