Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism. [electronic resource]
Producer: 20100721Description: 2028-38 p. digitalISSN:- 1460-2083
- Amino Acid Sequence
- Base Sequence
- Cell Nucleus -- metabolism
- DNA -- metabolism
- Enzyme Assays
- Family
- Female
- Genes, Recessive -- genetics
- Genes, Reporter
- Humans
- Hypoparathyroidism -- genetics
- Luciferases -- metabolism
- Male
- Models, Molecular
- Molecular Sequence Data
- Mutant Proteins -- chemistry
- Mutation -- genetics
- Nuclear Proteins -- chemistry
- Organ Specificity -- genetics
- Parathyroid Glands -- metabolism
- Pedigree
- Protein Binding
- Protein Transport
- Transcription Factors -- chemistry
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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