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In-frame single codon deletion in the Mmalton deficiency allele of alpha 1-antitrypsin.

A deficiency of the plasma protease inhibitor alpha 1-antitrypsin (alpha 1AT) is usually a consequence of the PI*Z allele. Mmalton is another deficiency allele which, like Z alpha 1AT, is associated with hepatocyte inclusions and impaired secretion. We report here the sequence of the PI Mmalton alle...

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Main Authors: Fraizer, G C, Harrold, T R, Hofker, M H, Cox, D W
格式: Artigo
語言:Inglês
出版: 1989
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC1715665/
https://ncbi.nlm.nih.gov/pubmed/2786335
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