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Autosomal dominant pseudohypoaldosteronism type 1 with a novel splice site mutation in MR gene
BACKGROUND: Autosomal dominant pseudohypoaldosteronism type 1 (PHA1) is a rare inherited condition that is characterized by renal resistance to aldosterone as well as salt wasting, hyperkalemia, and metabolic acidosis. Renal PHA1 is caused by mutations of the human mineralcorticoid receptor gene (MR...
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| Hlavní autoři: | , , , , , , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
BioMed Central
2009
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2779785/ https://ncbi.nlm.nih.gov/pubmed/19912655 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2369-10-37 |
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