GERMLINE MUTATION WITH SOMATIC REVERSION IN A PATIENT WITH A NOVEL MISSENSE VARIANT IN IKBKG GENE CAUSING X-LINKED ECTODERMAL DYSPLASIA WITH IMMUNE DEFICIENCY

Abdalgani Manar; Brazil Ashley; Towe Christopher; Bleesing Jack J.; Kucuk Zeynep Yesim

首页> 外文期刊>Journal of Clinical Immunology >GERMLINE MUTATION WITH SOMATIC REVERSION IN A PATIENT WITH A NOVEL MISSENSE VARIANT IN IKBKG GENE CAUSING X-LINKED ECTODERMAL DYSPLASIA WITH IMMUNE DEFICIENCY

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GERMLINE MUTATION WITH SOMATIC REVERSION IN A PATIENT WITH A NOVEL MISSENSE VARIANT IN IKBKG GENE CAUSING X-LINKED ECTODERMAL DYSPLASIA WITH IMMUNE DEFICIENCY

机译：IKBKG基因突变型患者中存在新的误诊变异的患者，采用体细胞再生进行生殖突变，导致X线性皮下营养不良并伴有免疫缺陷

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来源
《Journal of Clinical Immunology》 |2016年第3期|共1页
作者
Abdalgani Manar; Brazil Ashley; Towe Christopher; Bleesing Jack J.; Kucuk Zeynep Yesim;
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正文语种 eng
中图分类医学免疫学;
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1. GERMLINE MUTATION WITH SOMATIC REVERSION IN A PATIENT WITH A NOVEL MISSENSE VARIANT IN IKBKG GENE CAUSING X-LINKED ECTODERMAL DYSPLASIA WITH IMMUNE DEFICIENCY [J] . Abdalgani Manar, Brazil Ashley, Towe Christopher, Journal of Clinical Immunology . 2016,第3期

机译：IKBKG基因突变型患者中存在新的误诊变异的患者，采用体细胞再生进行生殖突变，导致X线性皮下营养不良并伴有免疫缺陷
2. A novel missense mutation in collagenous domain of EDA gene in a Chinese family with X-linked hypohidrotic ectodermal dysplasia [J] . Li Daxu, Xu Ran, Huang Fumeng, Journal of genetics . 2015,第1期

机译：X连锁性多汗症外胚层发育不良的中国家庭中EDA基因胶原结构域的新型错义突变
3. A novel missense mutation in collagenous domain of EDA gene in a Chinese family with X-linked hypohidrotic ectodermal dysplasia [J] . Biyuan Wang, Daxu Li, Fumeng Huang, Journal of genetics . 2015,第1期

机译：X连锁性多汗症外胚层发育不良的中国家庭中EDA基因胶原结构域的新型错义突变
4. DETECTING STATISTICAL INTERACTION BETWEEN SOMATIC MUTATIONAL EVENTS AND GERMLINE VARIATION FROM NEXT-GENERATION SEQUENCE DATA [C] . HAOHU, CHAD D. HUFF Pacific Symposium on Biocomputing . 2014

机译：从下一代序列数据检测体突变事件与种系变化之间的统计相互作用
5. Molecular mechanisms of DNA cleavage and transposition by the V(D)J recombinase: Implications for immune deficiency caused by RAG mutations [D] . Lu, Pei-ju 2008

机译：V（D）J重组酶切割和转座DNA的分子机制：对RAG突变引起的免疫缺陷的影响。
6. A Novel X-Linked Disorder of Immune Deficiency and Hypohidrotic Ectodermal Dysplasia Is Allelic to Incontinentia Pigmenti and Due to Mutations in IKK-gamma (NEMO) [O] . Jonathan Zonana, Melissa E. Elder, Lynda C. Schneider, 2000

机译：一种新型的X连锁的免疫缺陷和等汗性胚泡发育异常与色素失禁等位基因相关并且归因于IKK-γ（NEMO）的突变。
7. A Novel X-Linked Disorder of Immune Deficiency and Hypohidrotic Ectodermal Dysplasia Is Allelic to Incontinentia Pigmenti and Due to Mutations in IKK-gamma (NEMO) [O] . Zonana, Jonathan, Elder, Melissa E., Schneider, Lynda C., 2000

机译：新型的X连锁的免疫缺陷和等汗性胚泡发育异常是色素失禁的等位基因，并且是由于IKK-γ（NEMO）突变引起的。

GERMLINE MUTATION WITH SOMATIC REVERSION IN A PATIENT WITH A NOVEL MISSENSE VARIANT IN IKBKG GENE CAUSING X-LINKED ECTODERMAL DYSPLASIA WITH IMMUNE DEFICIENCY

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