A novel stoploss mutation CYB5R3 c.906A>G(p.*302Trpext*42) involved in the pathogenesis of hereditary methemoglobinemia-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

A novel stoploss mutation CYB5R3 c.906A>G(p.*302Trpext*42) involved in the pathogenesis of hereditary methemoglobinemia

Published:2025-01 Issue: Volume:564 Page:119930
ISSN:0009-8981
Container-title:Clinica Chimica Acta
language:en
Short-container-title:Clinica Chimica Acta

Author:

He Kai-ying,Yu Hong-ping,Zou Jing,Chen Xiang,Chen Li,Ruan Dan-dan,Chen Ting,Chen Qian,Zhang Li,Gao Mei-zhu,Lin Xin-fu,Li Hong,Fang Zhu-ting,Wu Jing,Luo Jie-wei^ORCID,Liao Li-sheng

Funder

Fujian Provincial Health Commission

Fujian Provincial Department of Science and Technology

Publisher

Elsevier BV

Reference26 articles.

1. Recessive congenital methaemoglobinaemia: cytochrome b(5) reductase deficiency;Percy;Br. J. Haematol.,2008

2. Inborn defects in the antioxidant systems of human red blood cells;van Zwieten;Free Radic. Biol. Med.,2014

3. Soluble cytochrome b 5 reductase from human erythrocytes;Passon;BBA,1972

4. Distribution of the integral membrane protein NADH-cytochrome b5 reductase in rat liver cells, studied with a quantitative radioimmunoblotting assay;Borgese;Biochem. J.,1986

5. Identification of a novel point mutation (Leu72Pro) in the NADH-cytochrome b5 reductase gene of a patient with hereditary methaemoglobinaemia type I;Wu;Br. J. Haematol.,1998

同舟云学术

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