Identification and characterization of C106R, a novel mutation in the DNA-binding domain of GCMB, in a family with autosomal-dominant hypoparathyroidism

OVERVIEW: Glial cells missing B (GCMB) is a transcription factor that is expressed in the parathyroid hormone (PTH)-secreting cells of the parathyroid glands. Several mutations in GCMB have been reported to cause hypoparathyroidism (HP). We identified a family with two individuals in two generations...

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Bibliographic Details
Main Authors:	Yi, Hyon-Seung, Eom, Young Sil, Park, Ie Byung, Lee, Sangho, Hong, Suntaek, Jüppner, Harald, Mannstadt, Michael, Lee, Sihoon
Format:	Artigo
Language:	Inglês
Published:	2012
Subjects:	Article
Online Access:	https://ncbi.nlm.nih.gov/pmc/articles/PMC3701386/ https://ncbi.nlm.nih.gov/pubmed/22066718 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1365-2265.2011.04256.x
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Identification and characterization of C106R, a novel mutation in the DNA-binding domain of GCMB, in a family with autosomal-dominant hypoparathyroidism

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