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

Molecular Genetics and Metabolism

Volumn 114, Issue 2, 2015, Pages 248-258

  Ferreira, Susana ^a   Ortiz, Alberto ^b   Germain, Dominique P ^c   Viana Baptista, Miguel ^d   Caldeira Gomes, António ^e   Camprecios, Marta ^f   Fenollar Cortés, Maria ^g   Gallegos Villalobos, Ángel ^b   Garcia, Diego ^h   García Robles, José Antonio ⁱ   Egido, Jesús ^b   Gutiérrez Rivas, Eduardo ^j   Herrero, José Antonio ^g   Mas, Sebastián ^b   Oancea, Raluca ^g   Péres, Paloma ^k   Salazar Martín, Luis Manuel ^l   Solera Garcia, Jesús ^m   Alves, Helena ⁿ   Garman, Scott C ^o   Oliveira, João Paulo ^a,e   more..

^a University of Porto   (Portugal)

^b UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

^c LABORATOIRE DES SCIENCES DU CLIMAT ET DE L ENVIRONNEMENT   (France)

^d NOVA MEDICAL SCHOOL   (Portugal)

^e Centro Hospitalar Universitário de São João   (Portugal)

^f HOSPITAL CLÍNIC   (Spain)

^g HOSPITAL CLÍNICO SAN CARLOS   (Spain)

^h Hospital Maritimo de Oza   (Spain)

ⁱ HOSPITAL GENERAL UNIVERSITARIO GREGORIO MARAÑÓN   (Spain)

^j HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^k HOSPITAL UNIVERSITARIO INFANTA LEONOR   (Spain)

^l Médico de atención primaria   (Spain)

^m HOSPITAL UNIVERSITARIO LA PAZ IDIPAZ   (Spain)

ⁿ Ministerio da Saude Portuguese   (Portugal)

^o UNIVERSITY OF MASSACHUSETTS   (United States)

more..

Author keywords

Fabry disease; GLA gene; R118C; Variant p.(Arg118Cys); Galactosidase A

Indexed keywords

ALPHA GALACTOSIDASE; DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR; TOLONIUM CHLORIDE; ALPHA-GALACTOSIDASE A, HUMAN; CODON;

ADULT; AGED; ALCOHOL ABUSE; ALCOHOL LIVER DISEASE; ARTICLE; CARPAL TUNNEL SYNDROME; CONTROLLED STUDY; DIASTOLIC DYSFUNCTION; DIFFERENTIAL DIAGNOSIS; ELECTROCARDIOGRAPHY; EXERCISE ELECTROCARDIOGRAPHY; FABRY DISEASE; FAMILY STUDY; FEMALE; GENE FREQUENCY; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE; HEART MUSCLE BIOPSY; HEART RIGHT BUNDLE BRANCH BLOCK; HEMANGIOKERATOMA; HISTOPATHOLOGY; HOMOZYGOTE; HUMAN; HYPERLIPIDEMIA; HYPERTENSION; IMMUNOFLUORESCENCE MICROSCOPY; IMMUNOREACTIVITY; KIDNEY BIOPSY; LIVER BIOPSY; MAJOR CLINICAL STUDY; MALE; MIDDLE AGED; MISSENSE MUTATION; NEPHROTIC SYNDROME; PHENOTYPE; PRIORITY JOURNAL; PROLIFERATIVE GLOMERULONEPHRITIS; SINUS BRADYCARDIA; URINALYSIS; VERY ELDERLY; ALLELE; AMINO ACID SUBSTITUTION; CHEMICAL STRUCTURE; CODON; COMPLICATION; ETHNOLOGY; FAMILY HEALTH; GENETICS; KIDNEY; MUTATION; PATHOLOGY;

ADULT; ALLELES; ALPHA-GALACTOSIDASE; AMINO ACID SUBSTITUTION; CODON; FABRY DISEASE; FAMILY HEALTH; FEMALE; GENE FREQUENCY; GENOTYPE; HUMANS; KIDNEY; MALE; MIDDLE AGED; MOLECULAR STRUCTURE; MUTATION; PHENOTYPE;

EID: 84921670805     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2014.11.004     Document Type: Article

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