An in vitro splicing assay reveals the pathogenicity of a novel intronic variant in ATP6V0A4 for autosomal recessive distal renal tubular acidosis

  • Tomohiko Yamamura
  • , Kandai Nozu
  • , Yuya Miyoshi
  • , Keita Nakanishi
  • , Junya Fujimura
  • , Tomoko Horinouchi
  • , Shogo Minamikawa
  • , Nobuo Mori
  • , Rika Fujimaru
  • , Koichi Nakanishi
  • , Takeshi Ninchoji
  • , Hiroshi Kaito
  • , Taniguchi Ikeda Mariko
  • , Ichiro Morioka
  • , Masafumi Matsuo
  • , Kazumoto Iijima

Research output: Contribution to journal › Article › peer-review

16 Citations (Scopus)

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Medicine and Dentistry

Biochemistry, Genetics and Molecular Biology