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Dominant-Negative GCMB Mutations Cause an Autosomal Dominant Form of Hypoparathyroidism
Context: Hypoparathyroidism (HP) is characterized by low PTH levels, hypocalcemia, and hyperphosphatemia. Heterozygous mutations in pre-pro-PTH or the calcium-sensing receptor (CaSR) cause some forms of autosomal dominant HP (AD-HP). Furthermore, homozygous mutations in glial cells missing B (GCMB)...
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| Hlavní autoři: | , , , , , , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
The Endocrine Society
2008
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2567849/ https://ncbi.nlm.nih.gov/pubmed/18583467 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2007-2167 |
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