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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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Detalles Bibliográficos
Autores principales:	Kanda, Kyoko, Nozu, Kandai, Yokoyama, Naoki, Morioka, Ichiro, Miwa, Akihiro, Hashimura, Yuya, Kaito, Hiroshi, Iijima, Kazumoto, Matsuo, Masafumi
Formato:	Texto
Lenguaje:	English
Publicado:	BioMed Central 2009
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2779785/ https://www.ncbi.nlm.nih.gov/pubmed/19912655 http://dx.doi.org/10.1186/1471-2369-10-37

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