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...
Príomhchruthaitheoirí: | 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 |
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Formáid: | Journal article |
Teanga: | English |
Foilsithe / Cruthaithe: |
2006
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Míreanna comhchosúla
Míreanna comhchosúla
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Utilisation of a cryptic non-canonical donor splice site of the gene encoding PARAFIBROMIN is associated with familial isolated primary hyperparathyroidism.
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Parafibromin--functional insights.
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Mice deleted for Cell division cycle 73 gene develop parathyroid and uterine tumours: model for the Hyperparathyroidism-Jaw Tumour Syndrome
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Cell division cycle protein 73 homolog (CDC73) mutations in the hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid tumors.
de réir: Newey, P, et al.
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HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome.
de réir: Carpten, J, et al.
Foilsithe / Cruthaithe: (2002)