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Rare PTH Gene Mutations Causing Parathyroid Disorders: A Review
Since parathyroid hormone (PTH) was first isolated and its gene (PTH) was sequenced, only eight PTH mutations have been discovered. The C18R mutation in PTH, discovered in 1990, was the first to be reported. This autosomal dominant mutation induces endoplasmic reticulum stress and subsequent apoptos...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Korean Endocrine Society
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7090289/ https://www.ncbi.nlm.nih.gov/pubmed/32207265 http://dx.doi.org/10.3803/EnM.2020.35.1.64 |