GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism

Primary hyperparathyroidism (PHPT) is a common endocrine disease characterized by parathyroid hormone excess and hypercalcemia and caused by hypersecreting parathyroid glands. Familial PHPT occurs in an isolated nonsyndromal form, termed familial isolated hyperparathyroidism (FIHP), or as part of a...

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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: Guan, Bin, Welch, James M., Sapp, Julie C., Ling, Hua, Li, Yulong, Johnston, Jennifer J., Kebebew, Electron, Biesecker, Leslie G., Simonds, William F., Marx, Stephen J., Agarwal, Sunita K.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5097944/
https://ncbi.nlm.nih.gov/pubmed/27745835
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2016.08.018
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