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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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Κύριοι συγγραφείς: | , , , , , , , , , |
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Μορφή: | Artigo |
Γλώσσα: | Inglês |
Έκδοση: |
2013
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Θέματα: | |
Διαθέσιμο Online: | 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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