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OR34-02 Somatic Transmembrane Domain Mutations of a Cell Adhesion Molecule, CADM1, Cause Primary Aldosteronism by Preventing Gap Junction Communication Between Adrenocortical Cells
Primary Aldosteronism (PA) is the commonest curable cause of hypertension. Whole exome sequencing (WES) in 2011 and 2013 identified common somatic mutations in genes regulating membrane polarisation in 60–80% of aldosterone-producing adenomas (APA). We undertook WES on 39 consecutive APAs in search...
Autores principales: | Wu, Xilin, Garg, Sumedha, Cabrera, Claudia P, Azizan, Elena, Zhou, Junhua, Mein, Chaz, Wozniak, Eva, Zhao, Wanfeng, Marker, Alison, Buss, Folma, Murakami, Masanori, Reincke, Martin, Takaoka, Yutaka, Beuschlein, Felix, Akihiko, Ito, Brown, Morris Jonathan |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7209540/ http://dx.doi.org/10.1210/jendso/bvaa046.492 |
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