Clinical Characteristics of the <i>GLA</i> N215S Variant and Implications for the Diagnosis and Management of Nonclassic Fabry Disease.

Reuter, Chloe; Platt, Julia

Clinical Characteristics of the GLA N215S Variant and Implications for the Diagnosis and Management of Nonclassic Fabry Disease.

Reuter, Chloe; Platt, Julia.

Affiliation

Reuter C; From the Department of Cardiology, Stanford Center for Inherited Cardiovascular Disease, Stanford Health Care, CA (C.R., J.P.); Stanford Center for Undiagnosed Diseases, CA (C.R.); and Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, CA (J.P.).
Platt J; From the Department of Cardiology, Stanford Center for Inherited Cardiovascular Disease, Stanford Health Care, CA (C.R., J.P.); Stanford Center for Undiagnosed Diseases, CA (C.R.); and Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, CA (J.P.). jplatt@stanfordhealthcare.org.

Circ Cardiovasc Genet ; 10(5)2017 10.

Article de En | MEDLINE | ID: mdl-29018007

Sujet(s)
Mots clés

Editorials; Fabry disease; cardiology; diagnosis; genetics; humans

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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Maladie de Fabry / Alpha-Galactosidase Type d'étude: Diagnostic_studies Limites: Humans Langue: En Journal: Circ Cardiovasc Genet Sujet du journal: ANGIOLOGIA / CARDIOLOGIA / GENETICA MEDICA Année: 2017 Type de document: Article

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