A novel gain-of-function mutation (W818R) of calcium-sensing receptor in a family with autosomal dominant hypocalcemia type 1.
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| Title: | A novel gain-of-function mutation (W818R) of calcium-sensing receptor in a family with autosomal dominant hypocalcemia type 1. |
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| Authors: | Fu M; Department of Endocrinology, Beijing Hospital, National Center for Gerontology; National Clinical Research Center for Gerontology, The Key Laboratory of Geriatrics of NHC; Institute of Geriatric Medicine, Chinese Academy of Medical Sciences, Beijing, China.; Department of Endocrinology, Wuhan Third Hospital, Wuhan, China., Luo Y; Department of Endocrinology, Beijing Hospital, National Center for Gerontology; National Clinical Research Center for Gerontology, The Key Laboratory of Geriatrics of NHC; Institute of Geriatric Medicine, Chinese Academy of Medical Sciences, Beijing, China.; Peking University Fifth School of Clinical Medicine, Beijing, China., Xu K; Center for Human Genome Research, Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, China., Guo L; Department of Endocrinology, Beijing Hospital, National Center for Gerontology; National Clinical Research Center for Gerontology, The Key Laboratory of Geriatrics of NHC; Institute of Geriatric Medicine, Chinese Academy of Medical Sciences, Beijing, China.; Peking University Fifth School of Clinical Medicine, Beijing, China., Pan Q; Department of Endocrinology, Beijing Hospital, National Center for Gerontology; National Clinical Research Center for Gerontology, The Key Laboratory of Geriatrics of NHC; Institute of Geriatric Medicine, Chinese Academy of Medical Sciences, Beijing, China.; Peking University Fifth School of Clinical Medicine, Beijing, China. |
| Source: | Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2026 May 08; Vol. 17, pp. 1806677. Date of Electronic Publication: 2026 May 08 (Print Publication: 2026). |
| Publication Type: | Journal Article; Case Reports |
| Journal Info: | Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101555782 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2392 (Print) Linking ISSN: 16642392 NLM ISO Abbreviation: Front Endocrinol (Lausanne) Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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