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Identification and Functional Characterization of a Calcium-Sensing Receptor Mutation in an Infant with Familial Hypocalciuric Hypercalcemia
Familial hypocalciuric hypercalcemia (FHH) is an autosomal dominant disorder, associated with inactivating mutations of the calcium-sensing receptor (CaSR). To evaluate the functional significance of a CaSR mutation, identified in a young infant who presented with hypercalcemia and hypocalciuria. Th...
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| 出版年: | J Clin Res Pediatr Endocrinol |
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| 主要な著者: | , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Galenos Publishing
2016
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5096500/ https://ncbi.nlm.nih.gov/pubmed/27087013 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4274/jcrpe.2800 |
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