Phenotype and genotype characterization and twin association in patients with Anderson-Fabry cardiomyopathy

Cardiology

Volumn 121, Issue 2, 2012, Pages 71-75

  Gomez, Miquel ^a   Molina, Lluis ^a   Cladellas, Mercedes ^a   Ascoeta, Soledad ^a   Soler, Cristina ^a   Ble, Mireia ^a   Ramirez, Aleyska ^a   Bruguera, Jordi ^a  

^a HOSPITAL DEL MAR   (Spain)

Author keywords

Anderson Fabry disease; Cardiomyopathy; GLA gene; Twins

Indexed keywords

AGALSIDASE ALFA; ALPHA GALACTOSIDASE; CREATININE;

ADULT; ARTICLE; CARDIOMYOPATHY; CASE REPORT; CREATININE BLOOD LEVEL; CREATININE CLEARANCE; DISEASE SEVERITY; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAPHY; ENZYME ACTIVITY; ENZYME REPLACEMENT; EXON; FABRY DISEASE; FAMILY HISTORY; GENE IDENTIFICATION; GENETIC ASSOCIATION; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HEART ATRIUM FIBRILLATION; HEART LEFT VENTRICLE HYPERTROPHY; HEMANGIOKERATOMA; HEMIZYGOTE; HUMAN; MALE; MIDDLE AGED; MISSENSE MUTATION; MONOZYGOTIC TWINS; MUTATIONAL ANALYSIS; MYALGIA; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; SCREENING;

ADULT; CARDIOMYOPATHIES; CODON, NONSENSE; DISEASES IN TWINS; ELECTROCARDIOGRAPHY; FABRY DISEASE; GENOTYPE; HEMIZYGOTE; HUMANS; HYPERTROPHY, LEFT VENTRICULAR; MALE; MIDDLE AGED; MUTATION, MISSENSE; PHENOTYPE; TWINS, DIZYGOTIC; TWINS, MONOZYGOTIC;

EID: 84857476835     PISSN: 00086312     EISSN: 14219751     Source Type: Journal    
DOI: 10.1159/000336168     Document Type: Article

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