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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Detalhes bibliográficos
Publicado no:J Endocr Soc
Main Authors: Guan, Bin, Welch, James M., Vemulapalli, Meghana, Li, Yulong, Ling, Hua, Kebebew, Electron, Simonds, William F., Marx, Stephen J., Agarwal, Sunita K.
Formato: Artigo
Idioma:Inglês
Publicado em: Endocrine Society 2017
Assuntos:
Clinical Research Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5686704/
https://ncbi.nlm.nih.gov/pubmed/29264504
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/js.2017-00043
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