Somatic hypermutation defects in two adult hyper immunoglobulin M patients.

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第一作者： Hülya,Yilmaz

第一单位： Hematology Department, Faculty of Medicine, Ankara University, Ankara, Turkey. md.hulya.yilmaz@gmail.com.

作者： Hülya,Yilmaz ^[1] ; Sinem,Fırtına ^[2] ; Merve,Sarıtaş ^[3] ; Müge,Sayitoğlu ^[4] ; Muhlis Cem,Ar ^[5]

作者单位： Hematology Department, Faculty of Medicine, Ankara University, Ankara, Turkey. md.hulya.yilmaz@gmail.com. ^[1] Bioinformatics and Genetics Department, Engineering and Natural Sciences Faculty, Istinye University, Istanbul, Turkey. ^[2] Institute of Graduate Studies in Health Sciences, Istanbul University, Istanbul, Turkey. ^[3] Aziz Sancar Institute of Experimental Medicine Genetics Department, Istanbul University, Istanbul, Turkey. ^[4] Hematology Department, Cerrahpaşa Medical Faculty, Istanbul University-Cerrahpaşa, Istanbul, Turkey. ^[5]

关键词 AID Hyper IgM deficiency Primary immunodeficiency UNG

主题词人类(Humans);免疫球蛋白M(Immunoglobulin M);胞苷脱氨酶(Cytidine Deaminase);高IgM免疫缺陷综合征(Hyper-IgM Immunodeficiency Syndrome);表型(Phenotype);体细胞高突变, 免疫球蛋白(Somatic Hypermutation, Immunoglobulin)

DOI 10.1007/s12026-022-09310-y

PMID 35879489

发布时间 2022-11-17

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