Characterization of a highly polymorphic marker adjacent to the SLC4A1 gene and of kidney immunostaining in a family with distal renal tubular acidosis

• Main Authors: Chairat Shayakul, Petr Jarolim, Marie Zachlederova, Daniel Prabakaran, Dionisio Cortez-Campeao, Dana Kalabova, Alan K. Stuart-Tilley, Hiroshi Ideguchi, Christlieb Haller, Seth L. Alper
• Other Authors: Brigham and Women's Hospital
• Format: Article
• Published: 2018
• Subjects: Medicine
• Online Access: https://repository.li.mahidol.ac.th/handle/123456789/21742
• Institution: Mahidol University

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 mechani...