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A Nonsense N –Terminus NFKB2 Mutation Leading to Haploinsufficiency in a Patient with a Predominantly Antibody Deficiency

机译：一种废话n -terminus nfkb2突变，导致患者患者的卵黄水量，主要是抗体缺乏

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Hye Sun Kuehn; Andrea Bernasconi; Julie E. Niemela; Maria Belen Almejun; William Alexander Franco Gallego; Shubham Goel; Jennifer L. Stoddard; Ronald Guillermo Peláez Sánchez; Carlos Andrés Arango Franco; Matías Oleastro; Eyal Grunebaum; Zuhair Ballas; Charlotte Cunningham-Rundles; Thomas A. Fleisher; José Luis Franco; Silvia Danielian; Sergio D. Rosenzweig;
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1. Mutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies [J] . Thierry Brue, Marie-Hélène Quentien, Konstantin Khetchoumian, BMC Medical Genetics . 2014,第1期

机译：NFKB2中的突变和大卫综合征患者的潜在遗传异质性，具有可变内分泌和免疫缺陷
2. Compound Heterozygous Nonsense Mutations Leading to Hereditary Deficiency of Coagulation Factor XI in a Chinese Pedigree [J] . Li Qian, Zeng Hui, Xu Yong, Blood: The Journal of the American Society of Hematology . 2018,第NovaelaTreatmentAppr期

机译：化合物杂合无意义突变导致中国血统凝血因子xi的遗传缺乏
3. Combined Immune Deficiency in a Patient with a Novel NFKB2 Mutation [J] . Lindsley Andrew W., Qian Yaping, Valencia C. Alexander, Journal of Clinical Immunology . 2014,第8期

机译：新型NFKB2突变患者的联合免疫缺陷
4. Investigation of Underlying Reasons of Factor VIM Deficiency in Hemophilia A Patients with Undetectable Mutations in the F8 Gene [C] . O.El-Maarri, C.Klein, J.Schroder, Hemophilia Symposium . 2008

机译：血友病因子vim缺乏症患者F8基因患者
5. DYRK1A Haploinsufficiency as a Subtype of ASD: Phenotypic Presentation and the Role of Parental Phenotype in Accounting for Variability in Individuals with ASD and Disruptive DYRK1A Mutations [D] . Earl, Rachel Kincade. 2018

机译：Dyrk1a Haploinfcuity作为ASD的亚型：表型呈现和父母表型在核查中核算中的变异性和破坏性Dyrk1a突变的作用
6. Mutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome having variable endocrine and immune deficiencies [O] . Thierry Brue, Marie-Hélène Quentien, Konstantin Khetchoumian, 2014

机译：具有可变内分泌和免疫缺陷的DAVID综合征患者的NFKB2突变和潜在的遗传异质性
7. Correction to: A Nonsense N –Terminus NFKB2 Mutation Leading to Haploinsufficiency in a Patient with a Predominantly Antibody Deficiency [O] . Hye Sun Kuehn, Andrea Bernasconi, Julie E. Niemela, 2020

机译：校正：一种非阵列N-erminus NFKB2突变，导致患者患者的卵泡水能丰富，主要是抗体缺乏

A Nonsense N –Terminus NFKB2 Mutation Leading to Haploinsufficiency in a Patient with a Predominantly Antibody Deficiency

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