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The mutation p.D313Y is associated with organ manifestation in Fabry disease.
du Moulin, M; Koehn, A F; Golsari, A; Dulz, S; Atiskova, Y; Patten, M; Münch, J; Avanesov, M; Ullrich, K; Muschol, N.
Afiliação
  • du Moulin M; Department of Paediatrics, University Medical Centre Hamburg-Eppendorf, Hamburg, Germany.
  • Koehn AF; Department of Paediatrics, University Medical Centre Hamburg-Eppendorf, Hamburg, Germany.
  • Golsari A; Department of Neurology, University Medical Centre Hamburg-Eppendorf, Hamburg, Germany.
  • Dulz S; Department of Ophthalmology, University Medical Centre Hamburg-Eppendorf, Hamburg, Germany.
  • Atiskova Y; Department of Ophthalmology, University Medical Centre Hamburg-Eppendorf, Hamburg, Germany.
  • Patten M; University Heart Centre, Department of Cardiology, University Medical Centre Hamburg-Eppendorf, Hamburg, Germany.
  • Münch J; University Heart Centre, Department of Cardiology, University Medical Centre Hamburg-Eppendorf, Hamburg, Germany.
  • Avanesov M; Department of Radiology, University Medical Centre Hamburg-Eppendorf, Hamburg, Germany.
  • Ullrich K; Martin Zeitz Centre for Rare Diseases, University Medical Centre Hamburg-Eppendorf, Hamburg, Germany.
  • Muschol N; Department of Paediatrics, University Medical Centre Hamburg-Eppendorf, Hamburg, Germany.
Clin Genet ; 92(5): 528-533, 2017 Nov.
Article em En | MEDLINE | ID: mdl-28276057
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Especificidade de Órgãos / Doença de Fabry / Alfa-Galactosidase / Predisposição Genética para Doença / Mutação Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
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PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Especificidade de Órgãos / Doença de Fabry / Alfa-Galactosidase / Predisposição Genética para Doença / Mutação Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2017 Tipo de documento: Article