Familial isolated primary hyperparathyroidism caused by mutations of the MEN1 gene.

Antzeko izenburuak

• Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidism.
  nork: Pannett, A, et al.
  Argitaratua: (2003)
• A homozygous inactivating calcium-sensing receptor mutation, Pro339Thr, is associated with isolated primary hyperparathyroidism: correlation between location of mutations and severity of hypercalcaemia.
  nork: Hannan, F, et al.
  Argitaratua: (2010)
• Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours.
  nork: Bradley, K, et al.
  Argitaratua: (2006)
• Utilisation of a cryptic non-canonical donor splice site of the gene encoding PARAFIBROMIN is associated with familial isolated primary hyperparathyroidism.
  nork: Bradley, K, et al.
  Argitaratua: (2005)
• Epidemiology, pathophysiology and genetics of primary hyperparathyroidism
  nork: Minisola, S, et al.
  Argitaratua: (2022)