Article
Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism.
Human molecular genetics - 15 May 2010
Bowl Michael R, Mirczuk Samantha M, Grigorieva Irina V, Piret Sian E, Cranston Treena, Southam Lorraine, Allgrove Jeremy, Bahl Shailini, Brain Caroline, Loughlin John, Mughal Zulf, Ryan Fiona, Shaw Nick, Thakker Yogini V, Tiosano Dov, Nesbit M Andrew, Thakker Rajesh V
Abstract excerpt
GCMB is a member of the small transcription factor family GCM (glial cells missing), which are important regulators of development, present in vertebrates and some invertebrates. In man, GCMB encodes a 506 amino acid parathyroid gland-specific protein, mutations of which have been reported to cau...
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