Article
Mutational analyses of the ATP6V1B1 and ATP6V0A4 genes in patients with primary distal renal tubular acidosis.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 Aug 2013
Miura Kenichiro, Sekine Takashi, Takahashi Kazuhiro, Takita Junko, Harita Yutaka, Ohki Kentaro, Park Myoung-Ja, Hayashi Yasuhide, Tajima Asako, Ishihara Masayuki, Hisano Masataka, Murai Miki, Igarashi Takashi
Abstract excerpt
BACKGROUND: Mutations in the ATP6V1B1 and the ATP6V0A4 genes cause primary autosomal-recessive distal renal tubular acidosis (dRTA). Large deletions of either gene in patients with dRTA have not been described. METHODS: The ATP6V1B1 and ATP6V0A4 genes were directly sequenced in 11 Japanese patien...
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