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

BACKGROUND: Autosomal recessive distal renal tubular acidosis (dRTA) is a rare hereditary disease caused by pathogenic variants in the ATP6V0A4 gene or ATP6V1B1 gene, and characterized by hyperchloremic metabolic acidosis with normal anion gap, hypokalemia, hypercalciuria, hypocitraturia and nephroc...

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Detalles Bibliográficos
Autores principales: Yamamura, Tomohiko, 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5716019/
https://www.ncbi.nlm.nih.gov/pubmed/29202719
http://dx.doi.org/10.1186/s12882-017-0774-4

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