Novel mutations in the calcium-sensing receptor gene associated with biochemical and functional differences in familial hypocalciuric hypercalcaemia.

@article{Ward2006NovelMI,
  title={Novel mutations in the calcium-sensing receptor gene associated with biochemical and functional differences in familial hypocalciuric hypercalcaemia.},
  author={Bryan K Ward and Aaron Len Magno and Bradley J Blitvich and Alexander J. Rea and Bronwyn G. A. Stuckey and J. P. Walsh and Thomas Ratajczak},
  journal={Clinical endocrinology},
  year={2006},
  volume={64 5},
  pages={580-7}
}
OBJECTIVE Heterozygous inactivating mutations of the calcium-sensing receptor (CaR) gene cause familial hypocalciuric hypercalcaemia (FHH), a generally benign disorder characterized by mild to moderate PTH-dependent hypercalcaemia. We aimed to identify the causative CaR mutations in three families with FHH and examine the correlation between type of mutation and biochemical and/or functional phenotypes. PATIENTS, DESIGN AND MEASUREMENTS: The CaR gene from FHH family members was assessed for… CONTINUE READING