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Journal article

Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism.

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...

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Publication status:
Published

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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

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