Distal Renal Tubular Acidosis Associated With Anion Exchanger 1 Mutations in Children in Thailand

• المؤلفون الرئيسيون: Sookkasem Khositseth, Apiwan Sirikanerat, Kulruedee Wongbenjarat, Sauwalak Opastirakul, Siri Khoprasert, Ratikorn Peuksungnern, Duangrurdee Wattanasirichaigoon, Wanna Thongnoppakhun, Vip Viprakasit, Pa thai Yenchitsomanus
• التنسيق: دورية
• منشور في: 2018
• الموضوعات: Medicine
• الوصول للمادة أونلاين: https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=34249278795&origin=inward; http://cmuir.cmu.ac.th/jspui/handle/6653943832/61298

Background: Mutations in the anion exchanger 1 (AE1) gene encoding the erythroid and kidney anion (chloride-bicarbonate) exchanger 1 may result in hereditary distal renal tubular acidosis (dRTA). Hemoglobinopathies are common in Thailand. We analyzed AE1 and hemoglobin mutations in children in Thail...