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A novel mutation in the GCM2 gene causing severe congenital isolated hypoparathyroidism
OBJECTIVE: To investigate the GCM2 gene in three siblings with congenital hypoparathyroidism and perform functional analysis. MATERIALS AND METHODS: We sequenced the GCM2 gene by PCR and analyzed the functional consequence of the mutation by transient transfection studies. Haplotype analysis was per...
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| Hlavní autoři: | , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
2012
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3694175/ https://ncbi.nlm.nih.gov/pubmed/23155703 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1515/jpem-2012-0080 |
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