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- Title
Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours.
- Authors
Bradley, K J; Cavaco, B M; Bowl, M R; Harding, B; Cranston, T; Fratter, C; Besser, G M; Conceição Pereira, M; Davie, M W J; Dudley, N; Leite, V; Sadler, G P; Seller, A; Thakker, R V
- Abstract
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 autosomal dominant disorders that may be caused by abnormalities of the HRPT2 gene, located on chromosome 1q31.2. HRPT2 encodes a 531 amino acid protein, parafibromin, which interacts with human homologues of the yeast Paf1 complex.
- Publication
Clinical endocrinology, 2006, Vol 64, Issue 3, p299
- ISSN
0300-0664
- Publication type
Journal Article
- DOI
10.1111/j.1365-2265.2006.02460.x