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

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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