Protein modeling to assess the pathogenicity of rare variants of SERPINA1 in patients suspected of having Alpha 1 Antitrypsin Deficiency
Author:
Funder
CSL Behring
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1186/s12881-019-0852-5.pdf
Reference35 articles.
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2. Stoller JK, Aboussouan LS. A review of alpha1-antitrypsin deficiency. Am J Respir Crit Care Med. 2012;185:246–59.
3. Gadek JE, Fells GA, Zimmerman RL, Rennard SI, Crystal RG. Antielastases of the human alveolar structures. Implications for the protease-antiprotease theory of emphysema. J Clin Invest. 1981;68:889–98.
4. Lomas DA. The selective advantage of alpha1-antitrypsin deficiency. Am J Respir Crit Care Med. 2006;173:1072–7.
5. Blanco I, de Serres FJ, Carcaba V, Lara B, Fernandez-Bustillo E. Alpha-1 antitrypsin deficiency PI*Z and PI*S gene frequency distribution using on maps of the world by an inverse distance weighting (IDW) multivariate interpolation method. Hepat Mon. 2012;12:e7434.
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