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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Main Authors: Kanda, Kyoko, Nozu, Kandai, Yokoyama, Naoki, Morioka, Ichiro, Miwa, Akihiro, Hashimura, Yuya, Kaito, Hiroshi, Iijima, Kazumoto, Matsuo, Masafumi
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2009
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Research Article
Acesso em linha: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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