Novel HMBS founder mutation and significant intronic polymorphism in Spanish patients with acute intermittent porphyria
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference20 articles.
1. The three-dimensional structures of mutants of porphobilinogen deaminase: Toward an understanding of the structural basis of acute intermittent porphyria;Brownlie;Protein Science,1994
2. Acute intermittent porphyria: Identification and expression of exonic mutations in the hydroxymethylbilane synthase gene;Chen;J Clin Invest,1994
3. Identification and characterization of hydroxymethylbilane synthase mutations causing acute intermittent porphyria: evidence for an ancestral founder of the common G111R mutation;De Siervi;Am J Med Genet,1999
4. La porfiria aguda intermitente en la región de Murcia;Fernández-Barreiro;Neurología,1993
5. Tissue-specific expression of the porphobilinogen deaminase. Two isoenzymes from a single gene;Grandchamp;Eur J Biochem,1987
Cited by 20 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. Acute intermittent porphyria: a disease with low penetrance and high heterogeneity;Frontiers in Genetics;2024-08-12
2. Clinical feature and genetic analysis of HMBS gene in Chinese patients with acute intermittent porphyria: a systematic review;Frontiers in Genetics;2023-12-11
3. Molecular analysis of eight splicing variants in the hydroxymethylbilane synthase gene;Frontiers in Genetics;2023-11-20
4. Health impact of acute intermittent porphyria in latent and non-recurrent attacks patients;Orphanet Journal of Rare Diseases;2021-02-27
5. Disorders of porphyrin metabolism;Biochemical and Molecular Basis of Pediatric Disease;2021
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