Article
Characterization of a highly polymorphic marker adjacent to the SLC4A1 gene and of kidney immunostaining in a family with distal renal tubular acidosis.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 Feb 2004
Shayakul Chairat, Jarolim Petr, Zachlederova Marie, Prabakaran Daniel, Cortez-Campeao Dionisio, Kalabova Dana, Stuart-Tilley Alan K, Ideguchi Hiroshi, Haller Christlieb, Alper Seth L
Abstract excerpt
BACKGROUND: Mutations in the human SLC4A1 (AE1/band 3) gene are associated with hereditary spherocytic anaemia and with distal renal tubular acidosis (dRTA). The molecular diagnosis of AE1 mutations has been complicated by the absence of highly polymorphic genetic markers, and the pathogenic mechanisms of some dRTA-associated AE1 mutations remain unclear. Here, we characterized a polymorphic dinucleotide repeat...
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