Two microcephaly-associated novel missense mutations in CASK specifically disrupt the CASK-neurexin interaction. [electronic resource]
Producer: 20190401Description: 231-246 p. digitalISSN:- 1432-1203
- Calcium-Binding Proteins
- Cell Adhesion Molecules, Neuronal -- chemistry
- Cerebellum -- abnormalities
- Child
- Child, Preschool
- Developmental Disabilities -- diagnostic imaging
- Female
- Genetic Diseases, X-Linked -- genetics
- Guanylate Kinases -- chemistry
- Humans
- Intellectual Disability -- diagnostic imaging
- Microcephaly -- diagnostic imaging
- Mutation, Missense -- genetics
- Nerve Tissue Proteins -- chemistry
- Nervous System Malformations -- diagnostic imaging
- Neural Cell Adhesion Molecules
- PDZ Domains -- genetics
- Phenotype
- Protein Aggregates -- genetics
- Protein Binding
- Protein Interaction Maps -- genetics
- T-Box Domain Proteins -- genetics
- src Homology Domains -- genetics
No physical items for this record
Publication Type: Journal Article
There are no comments on this title.
Log in to your account to post a comment.