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...

Descripción completa

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

Internet

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

Ejemplares similares