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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Publicat a:Am J Hum Genet
Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2016
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Article
Accés en línia: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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