Characterization of three new SERPINA1 variants PiQ0Heidelberg II, PiQ0Heidelberg III and PiQ0Heidelberg IV in patients with severe alpha-1 antitrypsin deficiency-Reference-Cited by-同舟云学术

Characterization of three new SERPINA1 variants PiQ0Heidelberg II, PiQ0Heidelberg III and PiQ0Heidelberg IV in patients with severe alpha-1 antitrypsin deficiency

Published:2023 Issue: Volume:43 Page:101838
ISSN:2213-0071
Container-title:Respiratory Medicine Case Reports
language:en
Short-container-title:Respiratory Medicine Case Reports

Author:

Höger Philipp,Veith Martina,Greulich Timm,Limen Eldridge,Brock Judith,Schlamp Kai,Buschulte Katharina,Presotto Maria A.,Schäfer Julia Carmen,Herth Felix,Trudzinski Franziska C.^ORCID

Funder

Grifols SA

Publisher

Elsevier BV

Subject

Pulmonary and Respiratory Medicine

Reference13 articles.

1. Novel variants of SERPIN1A gene: interplay between alpha1-antitrypsin deficiency and chronic obstructive pulmonary disease;Bashir;Respir. Med.,2016

2. The molecular and cellular pathology of alpha(1)-antitrypsin deficiency;Gooptu;Trends Mol. Med.,2014

3. 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

4. Why has it been so difficult to prove the efficacy of alpha-1-antitrypsin replacement therapy? Insights from the study of disease pathogenesis;Dickens;Drug Des. Dev. Ther.,2011

5. Clinical manifestations of a new alpha-1 antitrypsin genetic variant: Q0parma;Aiello;Respirol Case Rep,2022

Cited by 1 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. Haplotype-aware detection of SERPINA1 variants by nanopore sequencing;The Journal of Molecular Diagnostics;2024-09