Article
Novel somatic MEN1 gene alterations in sporadic primary hyperparathyroidism and correlation with clinical characteristics.
Journal of endocrinological investigation - 1 Dec 2004
Scarpelli D, D'Aloiso L, Arturi F, Scillitani A, Presta I, Bisceglia M, Cristofaro C, Russo D, Filetti S
Abstract excerpt
Primary hyperparathyroidism (pHPT) is a common endocrine disease that in more than 95% of cases is sporadic and only in some cases is caused by inherited disorders, isolated or as part of multiple endocrine neoplasia (MEN1 and 2). Somatic mutations of MEN1 gene have also been described in sporadic parathyroid tumors. In our study, we examined the presence of alterations in MEN1 gene in a series of 39 patients who...
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