Mutations affecting G-protein subunit α11 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...
Главные авторы: | Nesbit, M, Hannan, F, Howles, SA, Babinsky, V, Head, R, Cranston, T, Rust, N, Hobbs, MR, Heath, H, Thakker, R |
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Формат: | Journal article |
Язык: | English |
Опубликовано: |
2013
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