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• W2531347265 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 tubular acidosis, dyserythropoiesis was identified in the band 3 nullVIENNA patient, suggesting a role for band 3 in erythropoiesis. Moreover, we also, for the first time, report that long-term survival is possible in band 3 null patients." @default.
• W2531347265 created "2016-10-21" @default.
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• W2531347265 date "2016-10-08" @default.
• W2531347265 modified "2023-10-09" @default.
• W2531347265 title "Band 3 null^VIENNA, a novel homozygous<i>SLC4A1</i>p.Ser477X variant causing severe hemolytic anemia, dyserythropoiesis and complete distal renal tubular acidosis" @default.
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• W2531347265 doi "https://doi.org/10.1002/pbc.26227" @default.
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• W2531347265 hasPublicationYear "2016" @default.
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