Title : Distal renal tubular acidosis in Filipino children, caused by mutations of the anion-exchanger SLC4A1 (AE1, Band 3) gene.

Pub. Date : 2010

PMID : 20068363






2 Functional Relationships(s)
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1 RESULTS: In all affected children, the disease was associated with mutations of the SLC4A1 gene that codes for the bicarbonate/chloride anion-exchanger 1 (AE1, band 3) protein situated in the red cell membrane and the alpha-intercalated (proton-secreting) cell of the renal collecting duct. Bicarbonates solute carrier family 4 member 1 (Diego blood group) Homo sapiens
2 RESULTS: In all affected children, the disease was associated with mutations of the SLC4A1 gene that codes for the bicarbonate/chloride anion-exchanger 1 (AE1, band 3) protein situated in the red cell membrane and the alpha-intercalated (proton-secreting) cell of the renal collecting duct. Bicarbonates solute carrier family 4 member 1 (Diego blood group) Homo sapiens