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Markedly reduced activity of mutant calcium-sensing receptor with an inserted Alu element from a kindred with familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.

Missense mutations have been identified in the coding region of the extracellular calcium-sensing receptor (CASR) gene and cause human autosomal dominant hypo- and hypercalcemic disorders. The functional effects of several of these mutations have been characterized in either Xenopus laevis oocytes o...

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Detalhes bibliográficos
Main Authors: Bai, M, Janicic, N, Trivedi, S, Quinn, S J, Cole, D E, Brown, E M, Hendy, G N
Formato: Artigo
Idioma:Inglês
Publicado em: 1997
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC508016/
https://ncbi.nlm.nih.gov/pubmed/9109436
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