Neonatal severe hyperparathyroidism (NSHPT) is considered an autosomalrecessive disorder, attributable in many cases to homozygous inactivating mutations of the Ca ++ -sensing receptor (CASR) gene at 3q13.3-21. Most heterozygotes are clinically asymptomatic but manifest as familial (benign) hypocalc
A novel mutation (L174R) in the Ca2+-sensing receptor gene associated with familial hypocalciuric hypercalcemia
β Scribed by Bryan K. Ward; Bronwyn G. A. Stuckey; Donald H. Gutteridge; Nigel G. Laing; Peter T. Pullan; Thomas Ratajczak
- Publisher
- John Wiley and Sons
- Year
- 1997
- Tongue
- English
- Weight
- 121 KB
- Volume
- 10
- Category
- Article
- ISSN
- 1059-7794
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