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Article

Genetic variation in human aquaporins and effects on phenotypes of water homeostasis.

Human mutation - 1 Sept 2008

Sorani Marco D, Manley Geoffrey T, Giacomini Kathleen M

Abstract excerpt

Aquaporins (AQPs) are critical for the transport of water and small solutes. The 13 known human AQPs are divided into those that transport only water molecules, the "orthodox" AQPs, and those that transport glycerol and small solutes in addition to water, the aquaglyceroporins. In humans, genetic variation in AQPs can cause phenotypes of abnormal water homeostasis. Cellular and human studies of...

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Identifiers

PMID: 18470935
DOI: 10.1002/humu.20762

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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