Aquaporin-1, the archetypal water-channel protein,1 was initiallyidentified in red cells and renal proximal tubular epithelium.2The gene for aquaporin-1 (AQP1) on chromosome 7 colocalizeswith the Colton blood-group antigen,3,4 and the Colton blood-groupantigen polymorphism was identified as a substitution of a singleamino acid in an extracellular domain of aquaporin-1.5 The InternationalBlood Group Reference Laboratory has confirmed the existenceof only six kindreds who lack the Colton blood group. Membersof three of these kindreds were found to be homozygous for differentmutations in the AQP1 gene, and their red-cell membranes hada complete absence . . . [Full Text of this Article]
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Subject 1
Subject 2
Methods
Results
Discussion
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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.
References
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