Article
L1-associated diseases: clinical geneticists divide, molecular geneticists unite.
Human molecular genetics - 1 Jan 1997
Fransen E, Van Camp G, Vits L, Willems P J
Abstract excerpt
The neuronal cell adhesion molecule L1 (L1CAM) is a transmembrane glycoprotein belonging to the immunoglobulin superfamily and is essential in the development of the nervous system. It is mainly expressed on neurons and Schwann cells, and plays a key role in axon outgrowth and pathfinding through...
Topics
- Agenesis of Corpus Callosum
- Animals
- Antigens, Surface
- Base Sequence
- Humans
- Hydrocephalus
- Intellectual Disability
- Leukocyte L1 Antigen Complex
- Molecular Sequence Data
- Mutation
- Nervous System Diseases
- Nervous System Malformations
- Nervous System Physiological Phenomena
- Neural Cell Adhesion Molecules
- Paraplegia
- Syndrome
- X Chromosome