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Copy number variation of human AMY1 is a minor contributor to variation in salivary amylase expression and activity

20 Feb 2017

Abstract excerpt

BACKGROUND: Salivary amylase in humans is encoded by the copy variable gene AMY1 in the amylase gene cluster on chromosome 1. Although the role of salivary amylase is well established, the consequences of the copy number variation (CNV) at AMY1 on salivary amylase protein production are less well understood. The amylase gene cluster is highly structured with a fundamental difference between odd and even AMY1 copy...

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PMID: 28219410
DOI: 10.1186/s40246-017-0097-3

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