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

Geahča maid

• A homozygous inactivating calcium-sensing receptor mutation, Pro339Thr, is associated with isolated primary hyperparathyroidism: correlation between location of mutations and severity of hypercalcaemia.
  Dahkki: Hannan, F, et al.
  Almmustuhtton: (2010)
• Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidism.
  Dahkki: Pannett, A, et al.
  Almmustuhtton: (2003)
• Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours.
  Dahkki: Bradley, K, et al.
  Almmustuhtton: (2006)
• Familial Hypocalciuric Hypercalcaemia Type 3 (FHH3) Identified in a Family in Northern Ireland Leading to Identification of a Causative Mutation in the Adaptor Protein 2 Sigma 1 (AP2S1) Gene
  Dahkki: Graham, U, et al.
  Almmustuhtton: (2013)
• Utilisation of a cryptic non-canonical donor splice site of the gene encoding PARAFIBROMIN is associated with familial isolated primary hyperparathyroidism.
  Dahkki: Bradley, K, et al.
  Almmustuhtton: (2005)