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Article

Band 3 nullVIENNA, a novel homozygous SLC4A1 p.Ser477X variant causing severe hemolytic anemia, dyserythropoiesis and complete distal renal tubular acidosis

8 Oct 2016

Abstract excerpt

Abstract We describe the second patient with anionic exchanger 1/band 3 null phenotype (band 3 nullVIENNA), which was caused by a novel nonsense mutation c.1430C>A (p.Ser477X) in exon 12 of SLC4A1. We also update on the previous band 3 nullCOIMBRA patient, thereby elucidating the physiological implications of total loss of AE1/band 3. Besides transfusion‐dependent severe hemolytic anemia and complete distal renal...

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PMID: 27718309
DOI: 10.1002/pbc.26227

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