Description of 22 new alpha-1 antitrypsin genetic variants
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pharmacology (medical),Genetics (clinical),General Medicine
Link
http://link.springer.com/content/pdf/10.1186/s13023-018-0897-0.pdf
Reference16 articles.
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2. Callea F, Giovannoni I, Francalanci P, Boldrini R, Faa G, Medicina D, Nobili V, Desmet VJ, Ishak K, Seyama K, Bellacchio E. Mineralization of alpha-1-antitrypsin inclusion bodies in Mmalton alpha-1-antitrypsin deficiency. Orphanet J Rare Dis. 2018;13 https://doi.org/10.1186/s13023-018-0821-7 .
3. Arnaud P, Chapuis-Cellier C. Alpha 1-antitrypsin. Methods Enzymol. 1988;163:400–18.
4. Zerimech F, Hennache G, Bellon F, Barouh G, Jacques Lafitte J, Porchet N, Balduyck M. Evaluation of a new Sebia isoelectrofocusing kit for alpha 1-antitrypsin phenotyping with the Hydrasys system. Clin Chem Lab Med. 2008;46(2):260–3. https://doi.org/10.1515/CCLM.2008.036 .
5. Klumpp T, Bieth JG. Automated measurement of the elastase-inhibitory capacity of plasma with a centrifugal analyzer. Clin Chem. 1979;25(6):969–72.
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