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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...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2020
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| Materias: | |
| 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 |