Characterization of GATA3 mutations in the hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome. [electronic resource]
- The Journal of biological chemistry May 2004
- 22624-34 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
0021-9258
10.1074/jbc.M401797200 doi
Adolescent Adult Amino Acid Sequence Animals Binding Sites Cell Nucleus--metabolism Child Child, Preschool Codon Codon, Nonsense DNA--chemistry DNA-Binding Proteins--genetics Deafness--genetics Exons Family Health Female Frameshift Mutation GATA3 Transcription Factor Gene Deletion Genes, Dominant Glutathione Transferase--metabolism Green Fluorescent Proteins Humans Hypoparathyroidism--genetics Kidney Diseases--pathology Luminescent Proteins--metabolism Male Mice Middle Aged Models, Genetic Molecular Sequence Data Mutation Mutation, Missense Pedigree Protein Binding Protein Conformation Protein Structure, Tertiary RNA Splicing RNA, Messenger--metabolism Recombinant Fusion Proteins--metabolism Software Structure-Activity Relationship Trans-Activators--genetics Two-Hybrid System Techniques Zinc--chemistry Zinc Fingers