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Identification of a G‐Protein Subunit‐α11 Gain‐of‐Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2)
Autosomal dominant hypocalcemia (ADH) is characterized by hypocalcemia, inappropriately low serum parathyroid hormone concentrations and hypercalciuria. ADH is genetically heterogeneous with ADH type 1 (ADH1), the predominant form, being caused by germline gain‐of‐function mutations of the G‐protein...
Shranjeno v:
| izdano v: | J Bone Miner Res |
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| Main Authors: | , , , , , , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
John Wiley and Sons Inc.
2016
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4915495/ https://ncbi.nlm.nih.gov/pubmed/26818911 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jbmr.2797 |
| Oznake: |
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