Article
An in vitro splicing assay reveals the pathogenicity of a novel intronic variant in ATP6V0A4 for autosomal recessive distal renal tubular acidosis.
BMC nephrology - 4 Dec 2017
Yamamura Tomohiko, Nozu Kandai, Miyoshi Yuya, Nakanishi Keita, Fujimura Junya, Horinouchi Tomoko, Minamikawa Shogo, Mori Nobuo, Fujimaru Rika, Nakanishi Koichi, Ninchoji Takeshi, Kaito Hiroshi, Mariko Taniguchi-Ikeda, Morioka Ichiro, Matsuo Masafumi, Iijima Kazumoto
Abstract excerpt
BACKGROUND: Autosomal recessive distal renal tubular acidosis (dRTA) is a rare hereditary disease caused by pathogenic variants in the ATP6V0A4 gene or ATP6V1B1 gene, and characterized by hyperchloremic metabolic acidosis with normal anion gap, hypokalemia, hypercalciuria, hypocitraturia and nephrocalcinosis. Although several intronic nucleotide variants in these genes have been detected, all of them fell in the...
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