- Abstract:
-
Familial benign hypercalcemia (FBH) and neonatal hyperparathyroidism (NHPT) are disorders of calcium homeostasis that are associated with missense mutations of the calcium-sensing receptor (CaR). We have undertaken studies to characterize such CaR mutations in FBH and NHPT and to explore methods for their more rapid detection. Nine unrelated kindreds (39 affected, 32 unaffected members) with FBH and three unrelated children with sporadic NHPT were investigated for mutations in the 3,234-bp co...
Expand abstract - Publication status:
- Published
- Publisher copy:
- 10.1172/jci118335
-
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- Journal:
- The Journal of clinical investigation
- Volume:
- 96
- Issue:
- 6
- Pages:
- 2683-2692
- Publication date:
- 1995-12-05
- DOI:
- EISSN:
-
1558-8238
- ISSN:
-
0021-9738
- URN:
-
uuid:933f37cd-18e7-44dd-bda9-fb6e573e9c5c
- Source identifiers:
-
10610
- Local pid:
- pubs:10610
- Language:
- English
- Keywords:
- Copyright date:
- 1995
Journal article
Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism.
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