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Deep geno- and phenotyping in two consanguineous families with CMT2 reveals HADHA as an unusual disease-causing gene and an intronic variant in GDAP1 as an unusual mutation.
Khani, Marzieh; Taheri, Hanieh; Shamshiri, Hosein; Moazzeni, Hamidreza; Hardy, John; Bras, Jose Tomas; InanlooRahatloo, Kolsoum; Alavi, Afagh; Nafissi, Shahriar; Elahi, Elahe.
Affiliation
  • Khani M; School of Biology, College of Science, University of Tehran, Tehran, Iran.
  • Taheri H; School of Biology, College of Science, University of Tehran, Tehran, Iran.
  • Shamshiri H; Department of Neurology, Tehran University of Medical Sciences, Tehran, Iran.
  • Moazzeni H; School of Biology, College of Science, University of Tehran, Tehran, Iran.
  • Hardy J; Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK.
  • Bras JT; Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK.
  • InanlooRahatloo K; School of Biology, College of Science, University of Tehran, Tehran, Iran.
  • Alavi A; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
  • Nafissi S; Department of Neurology, Tehran University of Medical Sciences, Tehran, Iran. s_nafissi@yahoo.com.
  • Elahi E; School of Biology, College of Science, University of Tehran, Tehran, Iran. elaheelahi@ut.ac.ir.
J Neurol ; 268(2): 640-650, 2021 Feb.
Article de En | MEDLINE | ID: mdl-32897397
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Maladie de Charcot-Marie-Tooth / Sous-unité alpha de la protéine trifonctionnelle mitochondriale Type d'étude: Prognostic_studies Limites: Humans Langue: En Journal: J Neurol Année: 2021 Type de document: Article Pays d'affiliation: Iran
Texte intégral
Ajouter à My VHL
Imprimer
XML
PubMed Links
Recherche sur Google

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Maladie de Charcot-Marie-Tooth / Sous-unité alpha de la protéine trifonctionnelle mitochondriale Type d'étude: Prognostic_studies Limites: Humans Langue: En Journal: J Neurol Année: 2021 Type de document: Article Pays d'affiliation: Iran