A Novel SERPINA1 Mutation Causing Serum Alpha1-Antitrypsin Deficiency

Author:

Saunders Darren N.,Tindall Elizabeth A.,Shearer Robert F.,Roberson Jacquelyn,Decker Amy,Wilson Jean Amos,Hayes Vanessa M.

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

Reference18 articles.

1. Alpha1-antitrypsin deficiency. 1: epidemiology of alpha1-antitrypsin deficiency;M Luisetti;Thorax,2004

2. Alpha-1 antitrypsin deficiency is not a rare disease but a disease that is rarely diagnosed;FJ de Serres;Environ Health Perspect,2003

3. Clinical practice. Alpha1-antitrypsin deficiency;EK Silverman;N Engl J Med,2009

4. Why has it been so difficult to prove the efficacy of alpha-1-antitrypsin replacement therapy? Insights from the study of disease pathogenesis;JA Dickens;Drug Des Devel Ther,2011

5. A1ATVar: a relational database of human SERPINA1 gene variants leading to alpha1-antitrypsin deficiency and application of the VariVis software;S Zaimidou;Hum Mutat,2009

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