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, ElaheJournal:
Journal of Neurology
DOI:
10.1007/s00415-020-10171-4
Date:
September, 2020
Fichier:
PDF, 1.67 MB
2020
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