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A different clinical manifestation in a Japanese family with autosomal dominant distal renal tubular acidosis caused by SLC4A1 mutation
Mutations in SLC4A1, encoding the chloride–bicarbonate exchanger known as anion exchanger 1, have been reported as the sole genetic cause of autosomal dominant distal renal tubular acidosis (dRTA). This disorder is extremely rare and most patients show no clinical symptoms during childhood. Here, we...
Guardat en:
| Publicat a: | CEN Case Rep |
|---|---|
| Autors principals: | , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Springer Singapore
2020
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7502083/ https://ncbi.nlm.nih.gov/pubmed/32632909 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s13730-020-00500-x |
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