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
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 |
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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 |
تدمد: | 03405354 14321459 |
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DOI: | 10.1007/s00415-020-10171-4 |