Prenatal diagnosis in two families with autosomal, p47phox-deficient chronic granulomatous disease due to a novel point mutation inNCF1
Author:
Publisher
Wiley
Subject
Genetics (clinical),Obstetrics and Gynecology
Reference13 articles.
1. Point mutations in the beta-subunit of cytochrome b558 leading to X- linked chronic granulomatous disease
2. Human Gene Mutations Affecting RNA Processing and Translation
3. Seven new mutations in the nicotinamide adenine dinucleotide reduced–cytochrome b5 reductase gene leading to methemoglobinemia type I
4. Gene-scan method for the recognition of carriers and patients with p47phox-deficient autosomal recessive chronic granulomatous disease
5. A fast and easy method to determine the production of reactive oxygen intermediates by human and murine phagocytes using dihydrorhodamine 123
Cited by 19 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. Chronic Granulomatous Disease;NADPH Oxidases Revisited: From Function to Structure;2023
2. Second Report of Chronic Granulomatous Disease in Jordan: Clinical and Genetic Description of 31 Patients From 21 Different Families, Including Families From Lybia and Iraq;Frontiers in Immunology;2021-03-05
3. Genetic and molecular findings of 38 Iranian patients with chronic granulomatous disease caused by p47‐phoxdefect;Scandinavian Journal of Immunology;2019-04-25
4. Chronic Granulomatous Disease;Methods in Molecular Biology;2019
5. Mass spectrometry based proteomics profiling of human monocytes;Protein & Cell;2016-11-22
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