A novel germline mutation of the SFTPA1 gene in familial interstitial pneumonia-Reference-Cited by-同舟云学术

A novel germline mutation of the SFTPA1 gene in familial interstitial pneumonia

Published:2019-03-05 Issue:1 Volume:6 Page:
ISSN:2054-345X
Container-title:Human Genome Variation
language:en
Short-container-title:Hum Genome Var

Author:

Doubková Martina,Staňo Kozubík Kateřina,Radová Lenka,Pešová Michaela,Trizuljak Jakub,Pál Karol,Svobodová Klára,Réblová Kamila,Svozilová Hana,Vrzalová Zuzana,Pospíšilová Šárka,Doubek Michael

Funder

Ministerstvo Zdravotnictví Ceské Republiky

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,Biochemistry

Link

http://www.nature.com/articles/s41439-019-0044-z.pdf

Reference45 articles.

1. Talbert, J. L., Schwartz, D. A. & Steele, M. S. Familial interstitial pneumonia. Clin. Pulm. Med. 21, 120–127 (2014).

2. American Thoracic Society/EuropeanRespiratory Society International Multidisciplinary Consensus Classification of the Idiopathic Interstitial Pneumonias. This joint statement of the American Thoracic Society (ATS) and the European Respiratory Society (ERS) was adopted by the ATS board of directors, June 2001 and by the ERS Executive Committee, June 2001. Americant Thoracic Society; European Respiratory Society. Am. J. Respir. Crit. Care Med. 165, 277–304 (2002).

3. Spagnolo, P., Luppi, F., Cerri, S. & Richeldi, L. Genetic testing in difuse parenchymal lung disease. Orphanet J. Rare. Dis. 7, https://doi.org/10.1186/1750-1172-7-79 (2012).

4. Steele, M. P. et al. Clinical and pathologic features of familial interstitial pneumonia. Am. J. Respir. Crit. Care. Med. 172, 1146–1152 (2005).

5. Lee, H. L. et al. Familial idiopathic pulmonary fibrosis: clinical features and outcome. Chest 127, 2034–2041 (2005).

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