Novel mutation in EFCAB7 alters expression and interaction of Ellis-van Creveld ciliary proteins

MeSH terms

• Abnormalities, Multiple / genetics*
• Abnormalities, Multiple / metabolism
• Abnormalities, Multiple / pathology
• Calcium-Binding Proteins / genetics*
• Calcium-Binding Proteins / metabolism
• Cloning, Molecular
• Ellis-Van Creveld Syndrome / genetics*
• Ellis-Van Creveld Syndrome / metabolism
• Ellis-Van Creveld Syndrome / pathology
• Escherichia coli / genetics
• Escherichia coli / metabolism
• Gene Expression
• Genetic Vectors / chemistry
• Genetic Vectors / metabolism
• HEK293 Cells
• Heterozygote
• Humans
• Intercellular Signaling Peptides and Proteins
• Limb Deformities, Congenital / genetics*
• Limb Deformities, Congenital / metabolism
• Limb Deformities, Congenital / pathology
• Mutation, Missense*
• Pedigree
• Protein Binding
• Protein Interaction Domains and Motifs
• Proteins / genetics*
• Proteins / metabolism
• Recombinant Proteins / chemistry
• Recombinant Proteins / genetics
• Recombinant Proteins / metabolism
• Tooth Abnormalities / genetics*
• Tooth Abnormalities / metabolism
• Tooth Abnormalities / pathology
• Transfection