Caricamento...

Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis

Primary distal renal tubular acidosis (dRTA) is characterized by reduced ability to acidify urine, variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis. Kindreds showing either autosomal dominant or recessive transmission are described. Mutations in the chlor...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Autori principali: Karet, F. E., Gainza, F. J., Györy, A. Z., Unwin, R. J., Wrong, O., Tanner, M. J. A., Nayir, A., Alpay, H., Santos, F., Hulton, S. A., Bakkaloglu, A., Ozen, S., Cunningham, M. J., di Pietro, A., Walker, W. G., Lifton, R. P.
Natura: Artigo
Lingua:Inglês
Pubblicazione: The National Academy of Sciences 1998
Soggetti:
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC27686/
https://ncbi.nlm.nih.gov/pubmed/9600966
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !