Four novel RUNX2 mutations including a splice donor site result in the cleidocranial dysplasia phenotype

Biochemistry, Genetics and Molecular Biology

• Dysplasia 100%
• RUNX2 100%
• DNA Binding 30%
• Exon 30%
• Transactivation 30%
• Wild Type 20%
• Codon 20%
• Protein Stability 20%
• Amino Acids 10%
• Western Blot 10%
• Binding Affinity 10%
• Osteocalcin 10%
• Haploinsufficiency 10%
• Arginine 10%
• N-Terminus 10%
• Intron 10%
• Chinese Hamster 10%
• Nonsense Mutation 10%
• Missense Mutation 10%
• Transient Transfection 10%
• Autosomal Dominant Inheritance 10%
• Nuclear Localization Sequence 10%
• Subcellular Localization 10%
• Electrophoretic Mobility-Shift Assay 10%
• Splice Site Mutation 10%