Cargando…
A novel heterozygous mutation in the ATP6V0A4 gene encoding the V-ATPase a4 subunit in an adult patient with incomplete distal renal tubular acidosis
Autores principales: | Imai, Eri, Kaneko, Shuzo, Mori, Takayasu, Okado, Tomokazu, Uchida, Shinichi, Tsukamoto, Yusuke |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2016
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5162420/ https://www.ncbi.nlm.nih.gov/pubmed/27994869 http://dx.doi.org/10.1093/ckj/sfw114 |
Ejemplares similares
-
A novel heterozygous mutation in the ATP6V0A4 gene encoding the V-ATPase a4 subunit in an adult patient with incomplete distal renal tubular acidosis
por: Imai, Eri, et al.
Publicado: (2016) -
Incomplete Distal Renal Tubular Acidosis with Nephrocalcinosis
por: Choi, Joon Seok, et al.
Publicado: (2011) -
Mutations in ATP6V1B1 and ATP6V0A4 genes cause recessive distal renal tubular acidosis in Mexican families
por: Escobar, Laura I., et al.
Publicado: (2016) -
Relationship between rickets and incomplete distal renal tubular acidosis in children
por: Oduwole, Abiola O, et al.
Publicado: (2010) -
A mouse model for distal renal tubular acidosis reveals a previously unrecognized role of the V-ATPase a4 subunit in the proximal tubule
por: Hennings, J Christopher, et al.
Publicado: (2012)