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Three Novel Activating Mutations in the Calcium-Sensing Receptor Responsible for Autosomal Dominant Hypocalcemia

✍ Scribed by Yvette P. Conley; David N. Finegold; David G. Peters; Jennifer S. Cook; Daniel S. Oppenheim; Robert E. Ferrell


Book ID
115639774
Publisher
Elsevier Science
Year
2000
Tongue
English
Weight
172 KB
Volume
71
Category
Article
ISSN
1096-7192

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CASRdb: calcium-sensing receptor locus-s
✍ Svetlana Pidasheva; Lilia D'Souza-Li; Lucie Canaff; David E.C. Cole; Geoffrey N. πŸ“‚ Article πŸ“… 2004 πŸ› John Wiley and Sons 🌐 English βš– 217 KB

Familial hypocalciuric hypercalcemia (FHH) is caused by heterozygous loss-of-function mutations in the calcium-sensing receptor (CASR), in which the lifelong hypercalcemia is generally asymptomatic. Homozygous loss-of-function CASR mutations manifest as neonatal severe hyperparathyroidism (NSHPT), a