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Scandinavian Journal of Clinical and Laboratory Investigation Volume 60, 2000 - Issue 3
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Research Article

Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism associated with mutations in the human Ca2+-sensing receptor gene in three Danish families

P. Schwarz Department of Endocrinology 541, H:S Hvidovre Hospital, University of Copenhagen, Kettegaards Allé, DK-2650 Hvidovre, Denmark
,
N. E. Larsen Department of Endocrinology 541, H:S Hvidovre Hospital, University of Copenhagen, Kettegaards Allé, DK-2650 Hvidovre, Denmark
,
I. M. Lønborg Friis Department of Endocrinology 541, H:S Hvidovre Hospital, University of Copenhagen, Kettegaards Allé, DK-2650 Hvidovre, Denmark
,
K. Lillquist Department of Endocrinology 541, H:S Hvidovre Hospital, University of Copenhagen, Kettegaards Allé, DK-2650 Hvidovre, Denmark
,
E. M. Brown Department of Endocrinology 541, H:S Hvidovre Hospital, University of Copenhagen, Kettegaards Allé, DK-2650 Hvidovre, Denmark
&
S. Gammeltoft Department of Endocrinology 541, H:S Hvidovre Hospital, University of Copenhagen, Kettegaards Allé, DK-2650 Hvidovre, Denmark
Pages 221-228 | Published online: 08 Jul 2009
 
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Abstract

We screened three unrelated Danish families with familial hypocalciuric hypercalcemia (FHH) for mutations in the Ca2+

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