Known Mutations at the Cause of Alpha-1 Antitrypsin Deficiency an Updated Overview of SERPINA1 Variation Spectrum
Author:
Publisher
Informa UK Limited
Subject
Genetics (clinical),Genetics
Reference112 articles.
1. Portuguese consensus document for the management of alpha-1-antitrypsin deficiency
2. Alpha-1-antitrypsin (SERPINA1) mutation spectrum: Three novel variants and haplotype characterization of rare deficiency alleles identified in Portugal
3. What do dysfunctional serpins tell us about molecular mobility and disease?
4. The discovery of α1-antitrypsin and its role in health and disease
5. ATS/ERS. American thoracic society/European respiratory society statement: standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency. Am J Respir Crit Care Med. 2003;168(7):818–900. doi:10.1164/rccm.168.7.818.
Cited by 51 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. Sirtuin3 promotes the degradation of hepatic Z alpha-1 antitrypsin through lipophagy;Hepatology Communications;2024-01-29
2. Alpha-1 antitrypsin deficiency and pregnancy complications and birth outcomes: A population-based cohort study in Denmark;PLOS ONE;2024-01-02
3. Alpha1-antitrypsin deficiency in Greece: Focus on rare variants;Pulmonology;2024-01
4. Alpha-1-Antitrypsin (A1AT) Proteotyping by LC-MS/MS;Methods in Molecular Biology;2023-12-19
5. Characterization of Novel Alpha-1-Antitrypsin Coding Variants in a Mammalian Cellular Model;Methods in Molecular Biology;2023-12-19
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