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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...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Oxford University Press
2023
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| Materias: | |
| 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 |