Medical

SERPINA 1 gene

A 12.2 Kb gene on the long arm of chromosome 14. It is organized into four coding and three non-coding exons. There are more than 100 alleles designated A to Z. Individuals with the ZZ phenotype are homozygous for the Z allele and will have severe alpha 1 antitrypsin deficiency with an increased risk of emphysema.

Collins Dictionary of Medicine © Robert M. Youngson 2004, 2005

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alpha 1-antitrypsin deficiency

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