Title

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

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

Peer Reviewed

1

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