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...

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Vydáno v:Mol Genet Genomic Med
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley and Sons Inc. 2016
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Original Articles
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4867564/
https://ncbi.nlm.nih.gov/pubmed/27247958
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.205
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