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Mutations in ATP6V1B1 and ATP6V0A4 genes cause recessive distal renal tubular acidosis in Mexican families
BACKGROUND: Autosomal recessive distal renal tubular acidosis (dRTA) is a rare disease characterized by a hyperchloremic metabolic acidosis with normal anion gap, hypokalemia, hypercalciuria, hypocitraturia, nephrocalcinosis, and conserved glomerular filtration rate. In some cases, neurosensorial de...
Autores principales: | Escobar, Laura I., Simian, Christopher, Treard, Cyrielle, Hayek, Donia, Salvador, Carolina, Guerra, Norma, Matos, Mario, Medeiros, Mara, Enciso, Sandra, Camargo, María Dolores, Vargas‐Poussou, Rosa |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4867564/ https://www.ncbi.nlm.nih.gov/pubmed/27247958 http://dx.doi.org/10.1002/mgg3.205 |
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