Journal article
Activating mutations of the G-protein subunit α11 interdomain interface cause autosomal dominant hypocalcemia type 2
- Abstract:
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Context:
Autosomal dominant hypocalcemia types 1 and 2 (ADH1 and ADH2) are caused by germline gain-of-function mutations of the calcium-sensing receptor (CaSR) and its signaling partner, the G-protein subunit α 11 (Gα 11), respectively. More than 70 different gain-of-function CaSR mutations, but only 6 different gain-of-function Gα 11 mutations are reported to date.
Methods:
Expand abstract
We ascertained 2 additional ADH families and investigate...
- Publication status:
- Published
- Peer review status:
- Peer reviewed
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(Preview, Version of record, 2.2MB, Terms of use)
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- Publisher copy:
- 10.1210/clinem/dgz251
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Bibliographic Details
- Publisher:
- Oxford University Press
- Journal:
- Journal of Clinical Endocrinology and Metabolism More from this journal
- Volume:
- 105
- Issue:
- 3
- Article number:
- dgz251
- Publication date:
- 2019-12-10
- Acceptance date:
- 2019-12-02
- DOI:
- ISSN:
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0368-1610
Item Description
- Language:
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English
- Keywords:
- Pubs id:
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pubs:1076992
- UUID:
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uuid:77e1dfb5-0eef-4306-860c-d50cf8cb2b18
- Local pid:
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pubs:1076992
- Source identifiers:
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1076992
- Deposit date:
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2019-12-09
Terms of use
- Copyright holder:
- Endocrine Society
- Copyright date:
- 2019
- Rights statement:
- © Endocrine Society 2019. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
- Licence:
- CC Attribution (CC BY)
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