Article
Novel somatic mutations in the catalytic subunit of the protein kinase A as a cause of adrenal Cushing's syndrome: a European multicentric study.
The Journal of clinical endocrinology and metabolism - 1 Oct 2014
Di Dalmazi Guido, Kisker Caroline, Calebiro Davide, Mannelli Massimo, Canu Letizia, Arnaldi Giorgio, Quinkler Marcus, Rayes Nada, Tabarin Antoine, Laure Jullié Marie, Mantero Franco, Rubin Beatrice, Waldmann Jens, Bartsch Detlef K, Pasquali Renato, Lohse Martin, Allolio Bruno, Fassnacht Martin, Beuschlein Felix, Reincke Martin
Abstract excerpt
CONTEXT: Somatic mutations in PRKACA gene, encoding the catalytic subunit of protein kinase A (PKA), have been recently found in a high proportion of sporadic adenomas associated with Cushing's syndrome. The aim was to analyze the PRKACA mutation in a large cohort of patients with adrenocortical masses. METHODS: Samples from nine European centers were included (Germany, n = 4; Italy, n = 4; France, n = 1)....
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