Clinical characterization of a novel alpha1-antitrypsin null variant: PiQ0
Alpha1-antitrypsin
Alpha1-antitrypsin deficiency
Chronic obstructive pulmonary disease
PiQ0Heidelberg
SERPINA1
Journal
Respiratory medicine case reports
ISSN: 2213-0071
Titre abrégé: Respir Med Case Rep
Pays: England
ID NLM: 101604463
Informations de publication
Date de publication:
2022
2022
Historique:
received:
03
11
2021
revised:
02
12
2021
accepted:
30
12
2021
entrez:
14
1
2022
pubmed:
15
1
2022
medline:
15
1
2022
Statut:
epublish
Résumé
The clinical characterization of a null variant of
Identifiants
pubmed: 35028284
doi: 10.1016/j.rmcr.2021.101570
pii: S2213-0071(21)00232-X
pmc: PMC8741486
doi:
Types de publication
Case Reports
Langues
eng
Pagination
101570Informations de copyright
© 2022 The Authors. Published by Elsevier Ltd.
Déclaration de conflit d'intérêts
Maria A. Presotto, Martina Veith, Kai Schlamp, Markus Polke and Felix F.J. Herth have no conflicts of interest. Franziska Trudzinski reported personal fees from GlaxoSmithKline, Novartis and CSL Behring, outside the submitted work. Ralf Eberhardt received personal fees from Pfizer, Pulmonx, Olympus and Broncus outside the submitted work. Frederik Trinkmann received travel support from Actelion, Berlin Chemie, Boehringer Ingelheim, Chiesi, Novartis, Mundipharma, and TEVA, as well as speaker or consultation fees from AstraZeneca, Berlin Chemie, Boehringer Ingelheim, Bristol-Myers Squibb, Chiesi, GlaxoSmithKline, Novartis, Roche, and Sanofi-Aventis, all outside the submitted work.
Références
Orphanet J Rare Dis. 2016 Jun 10;11(1):75
pubmed: 27282198
Am J Respir Crit Care Med. 2007 Sep 15;176(6):532-55
pubmed: 17507545
Respir Res. 2014 Oct 07;15:125
pubmed: 25287719
COPD. 2018 Feb;15(1):4-9
pubmed: 29393705
Int J Chron Obstruct Pulmon Dis. 2019 Nov 18;14:2535-2542
pubmed: 31819391
J Mol Diagn. 2015 Nov;17(6):689-94
pubmed: 26321041
J Med Genet. 2005 Mar;42(3):282-7
pubmed: 15744045
Drug Des Devel Ther. 2011;5:391-405
pubmed: 21966212
Respir Med. 2016 Aug;117:139-49
pubmed: 27492524
Appl Clin Genet. 2021 Mar 22;14:173-194
pubmed: 33790624
Occup Med (Lond). 2008 May;58(3):226-7
pubmed: 18441368
Arch Bronconeumol (Engl Ed). 2021 Jan;57(1):42-50
pubmed: 32680720
Respir Med. 2016 Jul;116:8-18
pubmed: 27296815
Chest. 1989 Jan;95(1):196-208
pubmed: 2642408
Eur Respir J. 2009 Sep;34(3):648-54
pubmed: 19720809