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

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...

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Autores principales: Pearce, S H, Trump, D, Wooding, C, Besser, G M, Chew, S L, Grant, D B, Heath, D A, Hughes, I A, Paterson, C R, Whyte, M P
Formato: Artigo
Lenguaje:Inglês
Publicado: 1995
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC185975/
https://ncbi.nlm.nih.gov/pubmed/8675635
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