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Article

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

23 Mar 2017

Abstract excerpt

Abstract 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 named C-terminal conserved inhibitory domain (CCID). Objective: We investigated the ethnicity of individuals with...

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Identifiers

PMID: 29264504
DOI: 10.1210/js.2017-00043

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