Crossmark

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

Crossref DOI link: https://doi.org/10.1186/s12882-017-0774-4

Published Online: 2017-12-04

Published Print: 2017-12

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Yamamura, Tomohiko https://orcid.org/0000-0001-5576-6933
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
Funding

Funding for this research was provided by:

Ministry of Education, Culture, Sports, Science and Technology of Japan (16K19642, 25893131, 26293203)

Ministry of Health, Labour and Welfare (H24-nanchitou (nan)-ippan-041)