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An in vitro splicing assay reveals the pathogenicity of a n..:
Tomohiko Yamamura
;
Kandai Nozu
;
Yuya Miyoshi
...
http://link.springer.com/article/10.1186/s12882-017-0774-4. , 2017
Link:
https://doi.org/10.1186/s12882-017-0774-4
RT Journal T1
An in vitro splicing assay reveals the pathogenicity of a novel intronic variant in ATP6V0A4 for autosomal recessive distal renal tubular acidosis
UL https://suche.suub.uni-bremen.de/peid=base-ftdoajarticles:oai:doaj.org_article:fdb4383bc16b4c7fa74174d3442dd8b6&Exemplar=1&LAN=DE A1 Tomohiko Yamamura A1 Kandai Nozu A1 Yuya Miyoshi A1 Keita Nakanishi A1 Junya Fujimura A1 Tomoko Horinouchi A1 Shogo Minamikawa A1 Nobuo Mori A1 Rika Fujimaru A1 Koichi Nakanishi A1 Takeshi Ninchoji A1 Hiroshi Kaito A1 Taniguchi-Ikeda Mariko A1 Ichiro Morioka A1 Masafumi Matsuo A1 Kazumoto Iijima PB BMC YR 2017 K1 Autosomal recessive distal renal tubular acidosis K1 ATP6V0A4 K1 Minigene K1 Splicing assay K1 Diseases of the genitourinary system. Urology K1 RC870-923 JF http://link.springer.com/article/10.1186/s12882-017-0774-4 LK http://dx.doi.org/https://doi.org/10.1186/s12882-017-0774-4 DO https://doi.org/10.1186/s12882-017-0774-4 SF ELIB - SuUB Bremen
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