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...

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Xehetasun bibliografikoak
Egile Nagusiak: 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.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: The National Academy of Sciences 1998
Gaiak:
Biological Sciences
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC27686/
https://ncbi.nlm.nih.gov/pubmed/9600966
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