Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression. [electronic resource]
Producer: 20100927Description: 722-33 p. digitalISSN:- 1098-1004
- Adolescent
- Base Sequence
- Child
- Child, Preschool
- Chromosome Deletion
- Chromosomes, Human, Pair 5 -- genetics
- DNA -- chemistry
- DNA Mutational Analysis
- Female
- Gene Deletion
- Gene Expression Regulation
- Humans
- Intellectual Disability -- genetics
- Karyotyping
- Luciferases -- genetics
- MADS Domain Proteins -- chemistry
- MEF2 Transcription Factors
- Male
- Models, Molecular
- Mutation, Missense
- Myogenic Regulatory Factors -- chemistry
- Promoter Regions, Genetic -- genetics
- Protein Binding
- Protein Serine-Threonine Kinases -- genetics
- Protein Structure, Tertiary
- Recombinant Fusion Proteins -- genetics
- Syndrome
No physical items for this record
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
There are no comments on this title.
Log in to your account to post a comment.