Insertion of 16 amino acids in the BAR domain of the oligophrenin 1 protein causes mental retardation and cerebellar hypoplasia in an Italian family

Biochemistry, Genetics and Molecular Biology

• Amphiphysin 100%
• Protein 100%
• Mutation 60%
• OPHN1 60%
• Amino Acids 60%
• N-Terminus 40%
• Mental Retardation 40%
• Nested Gene 20%
• Inheritance 20%
• Phenotype 20%
• Screening 20%
• Endocytosis 20%
• Intron 20%
• Pleckstrin Homology Domain 20%
• Loss of Function Mutation 20%
• Nucleotide 20%
• Protein Function 20%
• Membrane Curvature 20%
• GTPase 20%
• Alpha Helix 20%
• Messenger RNA 20%
• Mutant 20%