A novel mutation (L174R) in the Ca2+-sensing receptor gene associated with familial hypocalciuric hypercalcemia

Hum Mutat. 1997;10(3):233-5. doi: 10.1002/(SICI)1098-1004(1997)10:3<233::AID-HUMU9>3.0.CO;2-J.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Arginine / genetics
  • Calcium / blood*
  • Calcium / deficiency
  • Calcium / urine*
  • Female
  • Humans
  • Hypercalcemia / blood
  • Hypercalcemia / genetics*
  • Hypercalcemia / urine
  • Leucine / genetics
  • Male
  • Parathyroid Hormone / blood
  • Parathyroid Hormone / genetics
  • Pedigree
  • Point Mutation*
  • Receptors, Calcium-Sensing
  • Receptors, Cell Surface / genetics*

Substances

  • Parathyroid Hormone
  • Receptors, Calcium-Sensing
  • Receptors, Cell Surface
  • Arginine
  • Leucine
  • Calcium