HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome.

Παρόμοια τεκμήρια

• Hereditary hyperparathyroidism-jaw tumor syndrome: the endocrine tumor gene HRPT2 maps to chromosome 1q21-q31.
  ανά: Szabó, J, κ.ά.
  Έκδοση: (1995)
• Hyperparathyroidism-jaw tumor syndrome in Roma families from Portugal is due to a founder mutation of the HRPT2 gene.
  ανά: Cavaco, B, κ.ά.
  Έκδοση: (2004)
• Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours.
  ανά: Bradley, K, κ.ά.
  Έκδοση: (2006)
• Novel HRPT2/CDC73 gene mutations and loss of expression of parafibromin in Chinese patients with clinically sporadic parathyroid carcinomas.
  ανά: Ou Wang, κ.ά.
  Έκδοση: (2012-01-01)
• Utilisation of a cryptic non-canonical donor splice site of the gene encoding PARAFIBROMIN is associated with familial isolated primary hyperparathyroidism.
  ανά: Bradley, K, κ.ά.
  Έκδοση: (2005)