Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours.

OBJECTIVE: To investigate two patients with the hyperparathyroidism-jaw tumour (HPT-JT) syndrome and three patients with familial isolated hyperparathyroidism (FIHP), together with 31 parathyroid tumours (2 HPT-JT, 2 FIHP and 27 sporadic) for HRPT2 mutations. The HPT-JT syndrome and FIHP are autosom...

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Main Authors: Bradley, K, Cavaco, B, Bowl, MR, Harding, B, Cranston, T, Fratter, C, Besser, G, Conceição Pereira, M, Davie, M, Dudley, N, Leite, V, Sadler, G, Seller, A, Thakker, R
פורמט: Journal article
שפה:English
יצא לאור: 2006