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Autosomal dominant distal renal tubular acidosis caused by a mutation in the anion exchanger 1 gene in a Japanese family
Autosomal dominant distal renal tubular acidosis (dRTA) is a rare disorder caused by a mutation in the AE1 gene encoding the chloride–bicarbonate (Cl(−)/HCO(3) (−)) anion exchanger 1 (AE1). Most patients with this disorder present with clinical symptoms in adulthood and their phenotype is milder tha...
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| Gepubliceerd in: | CEN Case Rep |
|---|---|
| Hoofdauteurs: | , , , , , , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
Springer Japan
2015
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5413770/ https://ncbi.nlm.nih.gov/pubmed/28509104 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s13730-015-0172-3 |
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