Article
Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma.
The New England journal of medicine - 30 Oct 2003
Shattuck Trisha M, Välimäki Stiina, Obara Takao, Gaz Randall D, Clark Orlo H, Shoback Dolores, Wierman Margaret E, Tojo Katsuyoshi, Robbins Christiane M, Carpten John D, Farnebo Lars-Ove, Larsson Catharina, Arnold Andrew
Abstract excerpt
BACKGROUND: We looked for mutations of the HRPT2 gene, which encodes the parafibromin protein, in sporadic parathyroid carcinoma because germ-line inactivating HRPT2 mutations have been found in a type of familial hyperparathyroidism--hyperparathyroidism-jaw tumor (HPT-JT) syndrome--that carries an increased risk of parathyroid cancer. METHODS: We directly sequenced the full coding and flanking splice-junctional...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.