Severe alpha-1 antitrypsin deficiency in composite heterozygotes inheriting a new splicing mutation QOMadrid-Reference-Cited by-同舟云学术

Severe alpha-1 antitrypsin deficiency in composite heterozygotes inheriting a new splicing mutation QOMadrid

Published:2014-10-07 Issue:1 Volume:15 Page:
ISSN:1465-993X
Container-title:Respiratory Research
language:en
Short-container-title:Respir Res

Author:

Lara Beatriz,Martínez Maria Teresa,Blanco Ignacio,Hernández-Moro Cristina,Velasco Eladio A,Ferrarotti Ilaria,Rodriguez-Frias Francisco,Perez Laura,Vazquez Irene,Alonso Javier,Posada Manuel,Martínez-Delgado Beatriz

Publisher

Springer Science and Business Media LLC

Link

http://link.springer.com/article/10.1186/s12931-014-0125-y/fulltext.html

Reference46 articles.

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2. Knappstein S, Ide T, Schmidt MA, Heusipp G: Alpha 1-antitrypsin binds to and interferes with functionality of EspB from atypical and typical enteropathogenic Escherichia coli strains. Infect Immun. 2004, 72: 4344-4350. 10.1128/IAI.72.8.4344-4350.2004.

3. Janciauskiene SM, Bals R, Koczulla R, Vogelmeier C, Kohnlein T, Welte T: The discovery of alpha1-antitrypsin and its role in health and disease. Respir Med. 2011, 105: 1129-1139. 10.1016/j.rmed.2011.02.002.

4. Lee JH, Brantly M: Molecular mechanisms of alpha1-antitrypsin null alleles. Respir Med. 2000, 94 (Suppl C): S7-S11. 10.1053/rmed.2000.0851.

5. 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: 818-900. 10.1164/rccm.168.7.818.

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