Phenotypic variability: clinical presentation between the 6th year and the 60th year in a family with X-linked agammaglobulinemia
Author:
Publisher
Elsevier BV
Subject
Immunology,Immunology and Allergy
Reference9 articles.
1. Primary antibody deficiencies;Schroeder,2001
2. Screening of genomic DNA to identify mutations in the gene for Bruton's tyrosine kinase;Conely;Hum Mol Genet,1994
3. Mutation in the X linked agammaglobulinaemia gene, BTK, using single strand conformation polymorphism analysis;Bradley;Hum Mol Genet,1994
4. Extreme variation in X-linked agammaglobulinaemia phenotype in a three generation family;Kornfeld;J Allergy Clin Immunol,1997
5. BTKbase, mutation database for X-linked agammaglobulinaemia (XLA);Vihinen;Nucl Acids Res,1998
Cited by 18 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Clinical heterogeneity in families with multiple cases of inborn errors of immunity;Clinical Immunology;2024-02
2. Clinical, Molecular, Immunological Properties and Our Clinical Experiences in Patients Diagnosed with X-linked Agamaglobulinemia;Journal of Dr Behcet Uz Children s Hospital;2023-12-04
3. Genetic screening of male patients with primary hypogammaglobulinemia can guide diagnosis and clinical management;Human Immunology;2018-07
4. Delayed diagnosis in X-linked agammaglobulinemia and its relationship to the occurrence of mutations in BTK non-kinase domains;Expert Review of Clinical Immunology;2017-12-11
5. X-linked agammaglobulinemia;Annals of Allergy, Asthma & Immunology;2016-10
1.学者识别学者识别
2.学术分析学术分析
3.人才评估人才评估
"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370
www.globalauthorid.com
TOP
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3