<i>HRPT2</i> mutations are associated with malignancy in sporadic parathyroid tumours

M. Howell, Viive; J Haven, C; Kahnoski, K; K Khoo, S; Petillo, D; Chen, J; J Fleuren, G; G Robinson, B; W Delbridge, L; Philips, J; E Nelson, A; Krause, U; Hammje, K; Dralle, H; Hoang-Vu, C; Gimm, O; J Marsh, D; Morreau, H; T Teh, B

doi:10.1136/jmg.40.9.657

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HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours

Published in Journal of Medical Genetics • Sep 1, 2003

Authors:

Viive M. Howell

C J Haven

K Kahnoski

Abstract

BACKGROUND: Hyperparathyroidism is a common endocrinopathy characterised by the formation of parathyroid tumours. In this study, we determine the role of the recently identified gene, HRPT2, in parathyroid tumorigenesis. METHODS: Mutation analysis of HRPT2 was undertaken in 60 parathyroid tumours: f...

Subject

Parathyroid carcinoma

Loss of heterozygosity

Germline mutation

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