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Assignment of the human gene for the water channel of renal collecting duct Aquaporin 2 (AQP2) to chromosome 12 region q12-->q13.
Department of Physiology, University of Nijmegen, The Netherlands.
The chromosomal localization of the gene encoding Aquaporin 2 (previously called WCH-CD), which acts as a water channel in the collecting tubules of the kidney, was determined. Southern blot hybridizations of chromosomal DNA from a panel of 25 different human-rodent hybrid cell lines assigned AQP2 to the q-arm of human chromosome 12. Additionally, in situ hybridization on R-banded metaphase chromosomes localized AQP2 to the q12-->q13 region of this chromosome.
PMID: 7512890 [PubMed - indexed for MEDLINE]
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Cited by 2 PubMed Central articles
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The genetics of primary nocturnal enuresis: inheritance and suggestion of a second major gene on chromosome 12q.
Arnell H, Hjälmås K, Jägervall M, Läckgren G, Stenberg A, Bengtsson B, Wassén C, Emahazion T, Annerén G, Pettersson U, et al.
J Med Genet. 1997 May; 34(5):360-5.
[J Med Genet. 1997]
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Patients with autosomal nephrogenic diabetes insipidus homozygous for mutations in the aquaporin 2 water-channel gene.
van Lieburg AF, Verdijk MA, Knoers VV, van Essen AJ, Proesmans W, Mallmann R, Monnens LA, van Oost BA, van Os CH, Deen PM.
Am J Hum Genet. 1994 Oct; 55(4):648-52.
[Am J Hum Genet. 1994]