Clinical and molecular characterization of a family with a dominant renin gene mutation and response to treatment with fludrocortisone

BACKGROUND: A family was identified with autosomal dominant inheritance of anemia, polyuria, hyperuricemia, and chronic kidney disease. Mutational analysis revealed a novel heterozygous mutation c.58T > C resulting in the amino acid substitution of cysteine for arginine in the preprorenin signal...

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Udgivet i:Clin Nephrol
Main Authors: Bleyer, A.J., Živná, M., Hulková, H., Hodanová, K., Vyletal, P., Sikora, J., Živný, J., Sovová, J., Hart, T.C., Adams, J.N., Elleder, M., Kapp, K., Haws, R., Cornell, L.D., Kmoch, S., Hart, P.S.
Format: Artigo
Sprog:Inglês
Udgivet: 2010
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4264543/
https://ncbi.nlm.nih.gov/pubmed/21084044
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