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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...

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Dades bibliogràfiques
Publicat a:CEN Case Rep
Autors principals: Sakuraya, Koji, Nozu, Kandai, Oka, Itsuhiro, Fujinaga, Shuichiro, Nagano, China, Ohtomo, Yoshiyuki, Iijima, Kazumoto
Format: Artigo
Idioma:Inglês
Publicat: Springer Singapore 2020
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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