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)

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

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

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