Genotype-Phenotype Analysis in Pediatric Patients with Distal Renal Tubular Acidosis

• Glavni autori: Eujin Park (Autor), Myung Hyun Cho (Autor), Hye Sun Hyun (Autor), Jae Il Shin (Autor), Joo Hoon Lee (Autor), Young Seo Park (Autor), Hyun Jin Choi (Autor), Hee Gyung Kang (Autor), Hae Il Cheong (Autor)
• Format: Knjiga
• Izdano: Karger Publishers, 2018-03-01T00:00:00Z.
• Teme: article
• Online pristup: Connect to this object online.

Background/Aims: Primary distal renal tubular acidosis (dRTA) in children is a rare genetic disorder, and three causative mutated genes have been identified: SLC4A1, ATP6V1B1, and ATP6V0A4. We analyzed the prevalence and phenotypic differences of genetic mutations in children with dRTA. Methods: A t...