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Article

Analysis of the alpha-1-antitrypsin deficient alleles M3S, MZ, and ZZ by biochemical and molecular methods: a family study.

Biochemical genetics - 1 Feb 2009

Calapoğlu Mustafa, Değer Orhan, Balaban Fulya, Sahin Calapoğlu Nilufer, Bülbül Yilmaz, Burling Keith

Abstract excerpt

Deficiency of alpha-1-antitrypsin (alpha(1)-AT, a major protease inhibitor controlling tissue degradation) is a genetic disorder transmitted in a codominant autosomal form. It has more than 100 genetically determined variants. This study attempted to determine the degree of association between serum alpha(1)-AT levels and phenotypes and to provide a strategy for reliable laboratory evaluation of deficiencies. The...

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PMID: 19083091
DOI: 10.1007/s10528-008-9204-4

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