دورية أكاديمية

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

التفاصيل البيبلوغرافية
العنوان: 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
المؤلفون: Khani, Marzieh, Taheri, Hanieh, Shamshiri, Hosein, Moazzeni, Hamidreza, Hardy, John, Bras, Jose Tomas, InanlooRahatloo, Kolsoum, Alavi, Afagh, Nafissi, ShahriarAff2, Elahi, ElaheAff1
المصدر: Journal of Neurology. 268(2):640-650
قاعدة البيانات: Springer Nature Journals
الوصف
تدمد:03405354
14321459
DOI:10.1007/s00415-020-10171-4