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

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Bibliographic Details
Published in:Human mutation 1997, Vol.10 (3), p.233-235
Main Authors: Ward, Bryan K., Stuckey, Bronwyn G. A., Gutteridge, Donald H., Laing, Nigel G., Pullan, Peter T., Ratajczak, Thomas
Format: Article
Language:English
Subjects:
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
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ISSN:1059-7794
1098-1004
DOI:10.1002/(SICI)1098-1004(1997)10:3<233::AID-HUMU9>3.0.CO;2-J