Prevalence and phenotype of subjects carrying rare variants in the Italian registry for alpha1-antitrypsin deficiency.
作者信息
Ferrarotti I, Baccheschi J, Zorzetto M, Tinelli C, Corda L, Balbi B, Campo I, Pozzi E, Faa G, Coni P, Massi G, Stella G, Luisetti M
出版信息
J Med Genet. 2005 Mar;42(3):282-7. doi: 10.1136/jmg.2004.023903.
Abstract
摘要
相似文献
1
Prevalence and phenotype of subjects carrying rare variants in the Italian registry for alpha1-antitrypsin deficiency.
J Med Genet. 2005 Mar;42(3):282-7. doi: 10.1136/jmg.2004.023903.
2
Population genetic screening for alpha1-antitrypsin deficiency in a high-prevalence area.
Respiration. 2011;82(5):418-25. doi: 10.1159/000325067. Epub 2011 Apr 6.
3
Clinical phenotypes of Italian and Spanish patients with α1-antitrypsin deficiency.
Eur Respir J. 2013 Jul;42(1):54-64. doi: 10.1183/09031936.00104712. Epub 2012 Dec 6.
4
Polymerase chain reaction detection of S and Z alpha-1-antitrypsin variants by duplex PCR assay.
Mol Cell Probes. 1999 Oct;13(5):389-91. doi: 10.1006/mcpr.1999.0264.
5
Estimated numbers and prevalence of PI*S and PI*Z deficiency alleles of alpha1-antitrypsin deficiency in Asia.
Eur Respir J. 2006 Dec;28(6):1091-9. doi: 10.1183/09031936.00029806. Epub 2006 Sep 27.
6
The prevalence of alpha(1)-antitrypsin deficiency in a representative population sample from Poland.
Respir Med. 2007 Dec;101(12):2520-5. doi: 10.1016/j.rmed.2007.06.032. Epub 2007 Aug 10.
7
Challenging identification of a novel PiISF and the rare PiMmaltonZ α1-antitrypsin deficiency variants in two patients.
Am J Clin Pathol. 2014 May;141(5):742-6. doi: 10.1309/AJCPR7EIQS8PIMLV.
8
Facilitating the laboratory diagnosis of α1-antitrypsin deficiency.
Am J Clin Pathol. 2013 Feb;139(2):184-91. doi: 10.1309/AJCP6XBK8ULZXWFP.
9
[Alpha 1-antitrypsin deficiency: the Brescia clinical study].
Recenti Prog Med. 2000 Jul-Aug;91(7-8):352-61.
10
Isoelectric focusing phenotyping and denaturing gradient gel electrophoresis genotyping: a comparison of two methods in detection of alpha-1-antitrypsin variants.
Transl Res. 2008 May;151(5):255-9. doi: 10.1016/j.trsl.2008.02.002. Epub 2008 Mar 19.
引用本文的文献
1
Characterization of the Mmalton carrier's cohort within the EARCO (European Alpha- 1 Antitrypsin Research Collaboration) registry.
BMC Pulm Med. 2025 Apr 23;25(1):187. doi: 10.1186/s12890-025-03651-8.
2
Rare variants in alpha 1 antitrypsin deficiency: a systematic literature review.
Orphanet J Rare Dis. 2024 Feb 22;19(1):82. doi: 10.1186/s13023-024-03069-1.
3
Case report of a novel alpha1-antitrypsin null variant in Türkiye: Q0.
BMC Pulm Med. 2024 Feb 21;24(1):91. doi: 10.1186/s12890-024-02900-6.
4
An Alpha-1 Antitrypsin Deficiency Screening Study in Patients with Chronic Obstructive Pulmonary Disease, Bronchiectasis, or Asthma in Turkey.
Int J Chron Obstruct Pulmon Dis. 2023 Nov 28;18:2785-2794. doi: 10.2147/COPD.S425835. eCollection 2023.
5
Distribution of alpha1 antitrypsin rare alleles in six countries: Results from the Progenika diagnostic network.
Hum Genomics. 2023 Jun 5;17(1):48. doi: 10.1186/s40246-023-00497-1.
6
New variants of alpha-1-antitrypsin: structural simulations and clinical expression.
Respir Res. 2022 Dec 10;23(1):339. doi: 10.1186/s12931-022-02271-8.
7
Frequency of alpha-1 antitrypsin deficiency and unexpected results in COPD patients in Turkey; rare variants are common.
Turk J Med Sci. 2022 Oct;52(5):1478-1485. doi: 10.55730/1300-0144.5486. Epub 2022 Oct 19.
8
Clinical characterization of a novel alpha1-antitrypsin null variant: PiQ0.
Respir Med Case Rep. 2022 Jan 3;35:101570. doi: 10.1016/j.rmcr.2021.101570. eCollection 2022.
9
Liver disease with unknown etiology - have you ruled out alpha-1 antitrypsin deficiency?
Ther Adv Chronic Dis. 2021 Jul 29;12_suppl:2040622321995684. doi: 10.1177/2040622321995684. eCollection 2021.
10
Alpha-1 antitrypsin deficiency in the elderly: a case report.
J Med Case Rep. 2021 May 10;15(1):231. doi: 10.1186/s13256-021-02847-w.
Zotero 插件