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From Negative to Positive Diagnosis: Structural Variation Could Be the Second Mutation You Are Looking for in a Recessive Autosomal Gene.
Pyromali, Ioanna; Benslimane, Nesrine; Favreau, Frédéric; Goizet, Cyril; Lazaro, Leila; Vitry, Martine; Derouault, Paco; Sturtz, Franck; Magdelaine, Corinne; Lia, Anne-Sophie.
Afiliação
  • Pyromali I; Faculty of Medicine, MMNP (Maintenance Myélinique et Neuropathies Périphériques), University of Limoges, EA6309, F-87000 Limoges, France.
  • Benslimane N; Faculty of Medicine, MMNP (Maintenance Myélinique et Neuropathies Périphériques), University of Limoges, EA6309, F-87000 Limoges, France.
  • Favreau F; Faculty of Medicine, MMNP (Maintenance Myélinique et Neuropathies Périphériques), University of Limoges, EA6309, F-87000 Limoges, France.
  • Goizet C; Centre Hospitalo-Universitaire (CHU) Limoges, Service de Biochimie et de Génétique Moléculaire, F-87000 Limoges, France.
  • Lazaro L; Centre Hospitalo-Universitaire (CHU) Bordeaux-GH Pellegrin Tripode, Service de Génétique Médicale, F-33076 Bordeaux, France.
  • Vitry M; Centre Hospitalier (CH) de la Côte Basque, F-64100 Bayonne, France.
  • Derouault P; Centre Hospitalo-Universitaire (CHU) Limoges, Service de Biochimie et de Génétique Moléculaire, F-87000 Limoges, France.
  • Sturtz F; Centre Hospitalo-Universitaire (CHU) Limoges, Service de Bioinformatique, F-87000 Limoges, France.
  • Magdelaine C; Faculty of Medicine, MMNP (Maintenance Myélinique et Neuropathies Périphériques), University of Limoges, EA6309, F-87000 Limoges, France.
  • Lia AS; Centre Hospitalo-Universitaire (CHU) Limoges, Service de Biochimie et de Génétique Moléculaire, F-87000 Limoges, France.
J Pers Med ; 12(2)2022 Feb 03.
Article em En | MEDLINE | ID: mdl-35207700
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Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies Idioma: En Ano de publicação: 2022 Tipo de documento: Article