An in vitro splicing assay reveals the pathogenicity of a novel intronic variant in ATP6V0A4 for autosomal recessive distal renal tubular acidosis.
Yamamura T, Nozu K, Miyoshi Y, Nakanishi K, Fujimura J, Horinouchi T, Minamikawa S, Mori N, Fujimaru R, Nakanishi K, Ninchoji T, Kaito H, Mariko TI, Morioka I, Matsuo M, Iijima K.
Yamamura T, et al. Among authors: nozu k.
BMC Nephrol. 2017 Dec 4;18(1):353. doi: 10.1186/s12882-017-0774-4.
BMC Nephrol. 2017.
PMID: 29202719
Free PMC article.