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Original Article
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Volume 345:175-179 July 19, 2001 Number 3
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Defective Urinary Concentrating Ability Due to a Complete Deficiency of Aquaporin-1
Landon S. King, M.D., Michael Choi, M.D., Pedro C. Fernandez, M.D., Jean-Pierre Cartron, Ph.D., and Peter Agre, M.D.

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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 absence . . . [Full Text of this Article]

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From the Divisions of Pulmonary and Critical Care Medicine (L.S.K.) and Nephrology (M.C.) and the Departments of Medicine (P.A.) and Biological Chemistry (L.S.K., P.A.), Johns Hopkins School of Medicine, Baltimore; the Penn Center for Molecular Kidney Diseases, University of Pennsylvania School of Medicine, Philadelphia (P.C.F.); and INSERM Unité 76, Paris (J.-P.C.).

Address reprint requests to Dr. King at the Division of Pulmonary and Critical Care Medicine, 600 N. Wolfe St., Blalock 910, Baltimore, MD 21287, or at lsking@welch.jhu.edu.

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