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

Authors

Elizabeth Yang, George Washington University
Patricia Seo-Mayer
Kimberly Lezon-Geyda
Katherine E Badior
Jing Li
Joseph R Casey
Reinhart A F Reithmeier
Patrick G Gallagher

Document Type

Journal Article

Publication Date

4-12-2018

Journal

Blood

Volume

131

Issue

15

Inclusive Pages

1759-1763

DOI

10.1182/blood-2018-01-827725

Keywords

Acidosis, Renal Tubular; Amino Acid Substitution; Anemia; Anion Exchange Protein 1, Erythrocyte; Biological Transport, Active; Humans; Infant, Newborn; Infant, Newborn, Diseases; Male; Mutation, Missense

APA Citation

Yang, E., Seo-Mayer, P., Lezon-Geyda, K., Badior, K., Li, J., Casey, J., Reithmeier, R., & Gallagher, P. (2018). A Ser725Arg mutation in Band 3 abolishes transport function and leads to anemia and renal tubular acidosis.. Blood, 131 (15). http://dx.doi.org/10.1182/blood-2018-01-827725

Peer Reviewed

1