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Defective Urinary Concentrating Ability Due to a Complete Deficiency of Aquaporin-1

Open access
King, Landon S., Choi, Michael, Fernandez, Pedro C., Cartron, Jean-Pierre, Agre, Peter·2001·New England Journal of Medicine

Abstract

Aquaporin-1, the archetypal water-channel protein,1 was initially identified in red cells and renal proximal tubular epithelium.2 The gene for aquaporin-1 (AQP1) on chromosome 7 colocalizes with the Colton blood-group antigen,3,4 and the Colton blood-group antigen polymorphism was identified as a substitution of a single amino acid in an extracellular domain of aquaporin-1.5 The International Blood Group Reference Laboratory has confirmed the existence of only six kindreds who lack the Colton blood group. Members of three of these kindreds were found to be homozygous for different mutations in the AQP1 gene, and their red-cell membranes had a complete . . .

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Metadata

Authors
King, L. S., Choi, M., Fernandez, P. C., Cartron, J.-P., & Agre, P.
Venue
New England Journal of Medicine
Published
2001-07-19
Volume
345
Issue
3
Pages
175-179
ISSN
  • 0028-4793 (ISSN-L)
  • 1533-4406
OpenAlex
W1995178724
Cited by
230
References
0
FWCI
5.75
Type
journal article
Language
en
Open access
bronze

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CoChat. (2026). Citation check: Defective Urinary Concentrating Ability Due to a Complete Deficiency of Aquaporin-1. https://app.cochat.ai/papers/10.1056/nejm200107193450304
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King, L. S., Choi, M., Fernandez, P. C., Cartron, J.-P., & Agre, P. (2001). Defective Urinary Concentrating Ability Due to a Complete Deficiency of Aquaporin-1. New England Journal of Medicine. https://doi.org/10.1056/nejm200107193450304

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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).

Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.