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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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Autors principals: Kanda, Kyoko, Nozu, Kandai, Yokoyama, Naoki, Morioka, Ichiro, Miwa, Akihiro, Hashimura, Yuya, Kaito, Hiroshi, Iijima, Kazumoto, Matsuo, Masafumi
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2009
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Accés en línia: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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