TY  - GEN
AU  - Ferreira,Susana
AU  - Ortiz,Alberto
AU  - Germain,Dominique P
AU  - Viana-Baptista,Miguel
AU  - Caldeira-Gomes,António
AU  - Camprecios,Marta
AU  - Fenollar-Cortés,Maria
AU  - Gallegos-Villalobos,Ángel
AU  - Garcia,Diego
AU  - García-Robles,José Antonio
AU  - Egido,Jesús
AU  - Gutiérrez-Rivas,Eduardo
AU  - Herrero,José Antonio
AU  - Mas,Sebastián
AU  - Oancea,Raluca
AU  - Péres,Paloma
AU  - Salazar-Martín,Luis Manuel
AU  - Solera-Garcia,Jesús
AU  - Alves,Helena
AU  - Garman,Scott C
AU  - Oliveira,João Paulo
TI  - The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studies
SN  - 1096-7206
PY  - 2015///1028
KW  - Adult
KW  - Alleles
KW  - Amino Acid Substitution
KW  - Codon
KW  - genetics
KW  - Fabry Disease
KW  - complications
KW  - Family Health
KW  - Female
KW  - Gene Frequency
KW  - Genotype
KW  - Humans
KW  - Kidney
KW  - pathology
KW  - Male
KW  - Middle Aged
KW  - Molecular Structure
KW  - Mutation
KW  - Phenotype
KW  - alpha-Galactosidase
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.ymgme.2014.11.004
ER  -