Condition: HYPERPARATHYROIDISM 1
rs1060500015 in
LOC101929160;CDC73 gene and
HYPERPARATHYROIDISM 1
PMID 18755853 2008 Clinical, genetic, and histopathologic investigation of CDC73-related familial hyperparathyroidism.
PMID 12960210 2003 HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours.
PMID 16487440 2006 Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours.
PMID 15632063 2005 The parafibromin tumor suppressor protein is part of a human Paf1 complex.
PMID 12434154 2002 HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome.