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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...

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Detalles Bibliográficos
Autores principales:	Lee, Joon-Hyop, Davaatseren, Munkhtugs, Lee, Sihoon
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Korean Endocrine Society 2020
Materias:	Review Article
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

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