Screening and function discussion of a hereditary renal tubular acidosis family pathogenic gene

Hereditary distal renal tubular acidosis (dRTA) is a rare disease of H(+) excretion defect of α-intercalated cells in renal collecting duct, caused by decreased V-ATPase function due to mutations in the ATP6V1B1 or ATP6V0A4 genes. In the present study, a genetic family with 5 members of the complete...

Descripción completa

Detalles Bibliográficos
Autores principales: Chen, Li, Wang, Han-Lu, Zhu, Yao-Bin, Jin, Zhao, Huang, Jian-Bin, Lin, Xin-Fu, Luo, Jie-Wei, Fang, Zhu-Ting
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7052238/
https://www.ncbi.nlm.nih.gov/pubmed/32123165
http://dx.doi.org/10.1038/s41419-020-2354-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7052238/
https://www.ncbi.nlm.nih.gov/pubmed/32123165
http://dx.doi.org/10.1038/s41419-020-2354-y

Ejemplares similares