Functional deletion of the calcium-sensing receptor in a case of neonatal severe hyperparathyroidism

Heterozygous inactivating mutations of the calcium-sensing receptor (CaR) cause familial hypocalciuric hypercalcemia, whereas homozygous or compound heterozygous inactivating mutations normally cause neonatal severe hyperparathyroidism. In a case of neonatal severe hyperparathyroidism characterized...

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Veröffentlicht in:	The journal of clinical endocrinology and metabolism Jg. 89; H. 8; S. 3721
Hauptverfasser:	Ward, Bryan K, Magno, Aaron L, Davis, Elizabeth A, Hanyaloglu, Aylin C, Stuckey, Bronwyn G A, Burrows, Mark, Eidne, Karin A, Charles, Adrian K, Ratajczak, Thomas
Format:	Journal Article
Sprache:	Englisch
Veröffentlicht:	United States 01.08.2004
Schlagworte:	Alleles Arginine Base Sequence Bone and Bones - diagnostic imaging Brain - diagnostic imaging Calcium - metabolism Cell Line Cell Membrane - metabolism Codon, Terminator Cytoplasm - metabolism DNA Mutational Analysis Gene Deletion Gene Expression Glycine Hand Heterozygote Humans Hyperparathyroidism - genetics Infant Male Pedigree Point Mutation Receptors, Calcium-Sensing - genetics Receptors, Calcium-Sensing - metabolism Tomography, X-Ray Computed
ISSN:	0021-972X
Online-Zugang:	Weitere Angaben
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