Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism.

Bowl, Michael R

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] - Human molecular genetics May 2010 - 2028-38 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1460-2083

10.1093/hmg/ddq084 doi


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