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Hereditary sensory autonomic neuropathy type II: Report of two novel mutations in the FAM134B gene.
Falcão de Campos, Catarina; Vidailhet, Marie; Toutain, Annick; de Becdelièvre, Alix; Funalot, Benoît; Bonello-Palot, Nathalie; Stojkovic, Tanya.
Affiliation
  • Falcão de Campos C; Department of Neurosciences and Mental Health, Department of Neurology, Hospital de Santa Maria, Centro Hospitalar Universitário de Lisboa Norte, Lisbon, Portugal.
  • Vidailhet M; APHP, GH Pitié-Salpêtrière, Department of Neurology, ICM and Sorbonne University, Paris, France.
  • Toutain A; Genetics Department, University Hospital, UMR 1253 iBrain, Inserm, Université de Tours, Tours, France.
  • de Becdelièvre A; APHP, Hôpital Henri Mondor, Department of Medical Genetics, Université Paris-Est-Créteil, Inserm UMR955, Créteil, France.
  • Funalot B; APHP, Hôpital Henri Mondor, Department of Medical Genetics, Université Paris-Est-Créteil, Inserm UMR955, Créteil, France.
  • Bonello-Palot N; APHM, Hôpital de la Timone, Department of Medical Genetics, Marseille, France.
  • Stojkovic T; APHP, GH-Pitié-Salpêtrière, Centre de référence des maladies neuromusculaires, Paris, France.
J Peripher Nerv Syst ; 24(4): 354-358, 2019 12.
Article in En | MEDLINE | ID: mdl-31596031
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Full text: 1 Database: MEDLINE Main subject: Hereditary Sensory and Autonomic Neuropathies / Intracellular Signaling Peptides and Proteins / Membrane Proteins Type of study: Prognostic_studies Limits: Adult / Female / Humans Language: En Journal: J Peripher Nerv Syst Journal subject: NEUROLOGIA Year: 2019 Type: Article Affiliation country: Portugal
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Full text: 1 Database: MEDLINE Main subject: Hereditary Sensory and Autonomic Neuropathies / Intracellular Signaling Peptides and Proteins / Membrane Proteins Type of study: Prognostic_studies Limits: Adult / Female / Humans Language: En Journal: J Peripher Nerv Syst Journal subject: NEUROLOGIA Year: 2019 Type: Article Affiliation country: Portugal