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AQP5-SNPs - Functional genetic polymorphisms (SNPs) in the human AQP5 gene for numerous pharmacogenetic applications

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01.09.2008

Enclosed are new, functionally relevant single nucleotide polymorphisms (SNPs) in regulatory sequences of the human AQP5 gene which encodes a water channel protein and plays a fundamental role in signal transduction and water homeostasis. Distinct genotypes of these SNPs determine the tissue expression of AQP5 and disease progression in a number of disorders.

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