Variant Tyr 394Ser in the GCM2 Gene Is Rare in a Cohort of Ashkenazi Jews With Primary Hyperparathyroidism

CONTEXT: Various genes have been associated with familial and sporadic primary hyperparathyroidism (PHPT), including activating mutations of the glial cells missing transcription factor 2 (GCM2) gene. OBJECTIVE: The aim of this study was to assess the prevalence of the GCM2 p.Tyr394Ser variant in th...

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Detalles Bibliográficos
Autores principales: Tolkin, Lior, Klein, Vanessa, Frankel, Meir, Altarescu, Gheona, Beeri, Rachel, Munter, Gabriel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Clinical Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10289514/
https://www.ncbi.nlm.nih.gov/pubmed/37362385
http://dx.doi.org/10.1210/jendso/bvad086

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10289514/
https://www.ncbi.nlm.nih.gov/pubmed/37362385
http://dx.doi.org/10.1210/jendso/bvad086

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