دورية أكاديمية
Loss of NHEJ1 Protein Due to a Novel Splice Site Mutation in a Family Presenting with Combined Immunodeficiency, Microcephaly, and Growth Retardation and Literature Review
العنوان: | Loss of NHEJ1 Protein Due to a Novel Splice Site Mutation in a Family Presenting with Combined Immunodeficiency, Microcephaly, and Growth Retardation and Literature Review |
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المؤلفون: | Sheikh, FarrukhAff1, Hawwari, AbbasAff2, Aff3, Alhissi, SafaAff3, Al Gazlan, SulaimanAff1, Al Dhekri, HasanAff4, Rehan Khaliq, Agha M.Aff1, Aff5, Borrero, EstebanAff3, Aff6, El-Baik, LinaAff3, Arnaout, RandAff1, Aff5, Al-Mousa, HamoudAff4, Aff5, Aff7, Alazami, Anas M.Aff3, Aff7 |
المصدر: | Journal of Clinical Immunology. 37(6):575-581 |
قاعدة البيانات: | Springer Nature Journals |
تدمد: | 02719142 15732592 |
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DOI: | 10.1007/s10875-017-0423-5 |