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Challenging the traditional approach for interpreting genetic variants: Lessons from Fabry disease.
Germain, Dominique P; Levade, Thierry; Hachulla, Eric; Knebelmann, Bertrand; Lacombe, Didier; Seguin, Vanessa Leguy; Nguyen, Karine; Noël, Esther; Rabès, Jean-Pierre.
Afiliação
  • Germain DP; French Referral Centre for Fabry Disease, Division of Medical Genetics, AP-HP University Paris Saclay, Garches, France.
  • Levade T; Division of Medical Genetics, University of Versailles-Saint-Quentin-en-Yvelines, Montigny le Bretonneux, France.
  • Hachulla E; INSERM UMR1037, Cancer Research Center of Toulouse (CRCT) and Paul Sabatier University, Toulouse, France.
  • Knebelmann B; Clinical Biochemistry Laboratory, Reference Center for Inherited Metabolic Diseases, Federative Institute of Biology, University Hospital of Toulouse, Toulouse, France.
  • Lacombe D; Department of Internal Medicine and Clinical Immunology, Claude Huriez Hospital, University of Lille, Lille, France.
  • Seguin VL; Nephrology-Dialysis Department, AP-HP, Necker Enfants Malades Hospital, University of Paris, Paris, France.
  • Nguyen K; Department of Medical Genetics, University Hospital of Bordeaux, Bordeaux, France.
  • Noël E; INSERM U1211, University of Bordeaux, Bordeaux, France.
  • Rabès JP; Department of Internal Medicine and Clinical Immunology, François Mitterrand Hospital, Dijon University Hospital, Dijon, France.
Clin Genet ; 101(4): 390-402, 2022 04.
Article em En | MEDLINE | ID: mdl-34927718
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Fabry Tipo de estudo: Diagnostic_studies / Guideline / Prognostic_studies / Risk_factors_studies Limite: Female / Humans Idioma: En Revista: Clin Genet Ano de publicação: 2022 Tipo de documento: Article País de afiliação: França
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Fabry Tipo de estudo: Diagnostic_studies / Guideline / Prognostic_studies / Risk_factors_studies Limite: Female / Humans Idioma: En Revista: Clin Genet Ano de publicação: 2022 Tipo de documento: Article País de afiliação: França