The Z mutation alters the global structural dynamics of α1-antitrypsin.
α1-Antitrypsin (α1AT) deficiency, the most common serpinopathy, results in both emphysema and liver disease. Over 90% of all clinical cases of α1AT deficiency are caused by the Z variant in which Glu342, located at the top of s5A, is replaced by a Lys which results in polymerization both in vivo and...
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Autores principales: | , , , |
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Formato: | article |
Lenguaje: | EN |
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Public Library of Science (PLoS)
2014
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Acceso en línea: | https://doaj.org/article/1441956e44c84a3689847f3755838e6e |
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