Article
[CDC73 mutations in young patients with primary hyperparathyroidism: A description of two clinical cases].
Terapevticheskii arkhiv - 1 Jan 2000
Mamedova E O, Mokrysheva N G, Pigarova E A, Przhiyalkovskaya E G, Voronkova I A, Vasilyev E V, Petrov V M, Gorbunova V A, Rozhinskaya L Ya, Belaya Zh E, Tyulpakov A N
Abstract excerpt
The article describes two clinical cases of severe primary hyperparathyroidism (PHPT) caused by parathyroid carcinoma in young female patients who underwent molecular genetic testing to rule out the hereditary forms of PHPT. In both patients, heterozygous germline nonsense mutations of tumor suppressor gene CDC73 encoding parafibromin (p.R91X and p.Q166X) were identified using next-generation sequencing with Ion...
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