Article
Molecular Diagnosis of Solute Carrier Family 4 Member 1 (SLC4A1) Mutation-Related Autosomal Recessive Distal Renal Tubular Acidosis.
Laboratory medicine - 1 Jan 2019
Deejai Nipaporn, Wisanuyotin Suwannee, Nettuwakul Choochai, Khositseth Sookkasem, Sawasdee Nunghathai, Saetai Kiattichai, Yenchitsomanus Pa-Thai, Rungroj Nanyawan
Abstract excerpt
BACKGROUND: Two common mutations of the solute carrier family 4 member 1 (SLC4A1) gene, namely, Southeast Asian ovalocytosis (SAO) and band 3 Bangkok 1 (G701D), cause autosomal recessive distal renal tubular acidosis (AR dRTA) in ethnic Southeast Asian populations. In this study, we applied the high-resolution melting (HRM) method for screening of AR dRTA associated with SLC4A1 mutations in 10 new patients with...
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