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Molecular Definition of Pseudohypoparathyroidism Variants
Pseudohypoparathyroidism (PHP) and pseudopseudohypoparathyroidism (PPHP) are caused by mutations and/or epigenetic changes at the complex GNAS locus on chromosome 20q13.3 that undergoes parent-specific methylation changes at several differentially methylated regions (DMRs). GNAS encodes the alpha-su...
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| Yayımlandı: | J Clin Endocrinol Metab |
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| Yazar: | |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Oxford University Press
2021
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8118362/ https://ncbi.nlm.nih.gov/pubmed/33529330 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/clinem/dgab060 |
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