Novel compound heterozygous SLC4A1 mutations in Thai patients with autosomal recessive distal renal tubular acidosis

• Main Authors: Suchai Sritippayawan, Achra Sumboonnanonda, Somkiat Vasuvattakul, Thitima Keskanokwong, Nunghathai Sawasdee, Atchara Paemanee, Peti Thuwajit, Prapon Wilairat, Sumalee Nimmannit, Prida Malasit, Pa Thai Yenchitsomanus
• Other Authors: Mahidol University
• Format: Article
• Published: 2018
• Subjects: Medicine
• Online Access: https://repository.li.mahidol.ac.th/handle/123456789/21610

Background: Mutations in the SLC4A1 gene have been found to cause either autosomal dominant (AD) or autosomal recessive (AR) distal renal tubular acidosis (dRTA). The SLC4A1 mutations causing AD dRTA were reported in white patients, whereas those associated with AR dRTA were often found in Southeast...