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The D313Y variant in the GLA gene - no evidence of a pathogenic role in Fabry disease.
Hasholt, Lis; Ballegaard, Martin; Bundgaard, Henning; Christiansen, Michael; Law, Ian; Lund, Allan M; Norremolle, Anne; Krogh Rasmussen, Ase; Ravn, Kirstine; Tumer, Zeynep; Wibrand, Flemming; Feldt-Rasmussen, Ulla.
Afiliación
  • Hasholt L; a Section of Neurogenetics, Department of Cellular and Molecular Medicine , Copenhagen University , Denmark.
  • Ballegaard M; b Department of Neurophysiology , Rigshospitalet, Copenhagen University , Denmark.
  • Bundgaard H; c Unit for Inherited Cardiac Diseases, Department of Cardiology , Rigshospitalet, Copenhagen University , Denmark.
  • Christiansen M; d Department for Congenital Disorders , Statens Serum Institut , Denmark.
  • Law I; e Departments of Nuclear Medicine , Rigshospitalet, Copenhagen University , Denmark.
  • Lund AM; f Clinical Genetics , Rigshospitalet, Copenhagen University , Denmark.
  • Norremolle A; a Section of Neurogenetics, Department of Cellular and Molecular Medicine , Copenhagen University , Denmark.
  • Krogh Rasmussen A; g Medical Endocrinology , Rigshospitalet, Copenhagen University , Denmark.
  • Ravn K; f Clinical Genetics , Rigshospitalet, Copenhagen University , Denmark.
  • Tumer Z; a Section of Neurogenetics, Department of Cellular and Molecular Medicine , Copenhagen University , Denmark.
  • Wibrand F; f Clinical Genetics , Rigshospitalet, Copenhagen University , Denmark.
  • Feldt-Rasmussen U; g Medical Endocrinology , Rigshospitalet, Copenhagen University , Denmark.
Scand J Clin Lab Invest ; 77(8): 617-621, 2017 Dec.
Article en En | MEDLINE | ID: mdl-29037082
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Enfermedad de Fabry / Alfa-Galactosidasa / Mutación Missense Tipo de estudio: Prognostic_studies Límite: Adult / Aged / Child / Female / Humans / Male / Middle aged Idioma: En Revista: Scand J Clin Lab Invest Año: 2017 Tipo del documento: Article País de afiliación: Dinamarca
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Enfermedad de Fabry / Alfa-Galactosidasa / Mutación Missense Tipo de estudio: Prognostic_studies Límite: Adult / Aged / Child / Female / Humans / Male / Middle aged Idioma: En Revista: Scand J Clin Lab Invest Año: 2017 Tipo del documento: Article País de afiliación: Dinamarca