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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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| Publicat a: | Clin Nephrol |
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| Autors principals: | , , , , , , , , , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2010
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4264543/ https://ncbi.nlm.nih.gov/pubmed/21084044 |
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