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

التفاصيل البيبلوغرافية
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
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
الوصف
تدمد:02719142
15732592
DOI:10.1007/s10875-017-0423-5