A Ser725Arg mutation in Band 3 abolishes transport function and leads to anemia and renal tubular acidosis

Blood. 2018 Apr 12;131(15):1759-1763. doi: 10.1182/blood-2018-01-827725. Epub 2018 Feb 26.

Elizabeth Yang^{1

2

3}, Patricia Seo-Mayer^{1

3}, Kimberly Lezon-Geyda⁴, Katherine E Badior⁵, Jing Li⁶, Joseph R Casey⁵, Reinhart A F Reithmeier⁶, Patrick G Gallagher^{4

7}

¹ Pediatric Specialists of Virginia, Falls Church, VA.
² Department of Pediatrics, George Washington University School of Medicine, Washington, DC.
³ Department of Pediatrics, Inova Fairfax Hospital, Falls Church, VA.
⁴ Department of Pediatrics, Yale University School of Medicine, New Haven, CT.
⁵ Department of Biochemistry, Membrane Protein Disease Research Group, University of Alberta, Edmonton, AB, Canada.
⁶ Department of Biochemistry, University of Toronto, Toronto, ON, Canada; and.
⁷ Departments of Pathology and Genetics, Yale University School of Medicine, New Haven, CT.

No abstract available

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