Mutations Affecting G-Protein Subunit α(11) in Hypercalcemia and Hypocalcemia

BACKGROUND: Familial hypocalciuric hypercalcemia is a genetically heterogeneous disorder with three variants: types 1, 2, and 3. Type 1 is due to loss-of-function mutations of the calcium-sensing receptor, a guanine nucleotide–binding protein (G-protein)–coupled receptor that signals through the G-p...

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Main Authors: Nesbit, M. Andrew, Hannan, Fadil M., Howles, Sarah A., Babinsky, Valerie N., Head, Rosie A., Cranston, Treena, Rust, Nigel, Hobbs, Maurine R., Heath, Hunter, Thakker, Rajesh V.
Formato: Artigo
Idioma:Inglês
Publicado em: 2013
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3773604/
https://ncbi.nlm.nih.gov/pubmed/23802516
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1056/NEJMoa1300253
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