Nesbit, M Andrew

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