Ethnicity of Patients With Germline GCM2-Activating Variants and Primary Hyperparathyroidism

CONTEXT: Germline gain-of-function variants in the transcription factor GCM2 were found in 18% of kindreds with familial isolated hyperparathyroidism (FIHP). These variants [c.1136T>A (p.Leu379Gln) and c.1181A>C (p.Tyr394Ser)] were located in a 17-amino acid transcriptional inhibitory domain n...

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Detalles Bibliográficos
Autores principales: Guan, Bin, Welch, James M., Vemulapalli, Meghana, Li, Yulong, Ling, Hua, Kebebew, Electron, Simonds, William F., Marx, Stephen J., Agarwal, Sunita K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Endocrine Society 2017
Materias:
Clinical Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5686704/
https://www.ncbi.nlm.nih.gov/pubmed/29264504
http://dx.doi.org/10.1210/js.2017-00043

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5686704/
https://www.ncbi.nlm.nih.gov/pubmed/29264504
http://dx.doi.org/10.1210/js.2017-00043

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