Article
Somatic mutation, genomic variation, and neurological disease.
Science (New York, N.Y.) - 5 Jul 2013
Poduri Annapurna, Evrony Gilad D, Cai Xuyu, Walsh Christopher A
Abstract excerpt
Genetic mutations causing human disease are conventionally thought to be inherited through the germ line from one's parents and present in all somatic (body) cells, except for most cancer mutations, which arise somatically. Increasingly, somatic mutations are being identified in diseases other than cancer, including neurodevelopmental diseases. Somatic mutations can arise during the course of prenatal brain...
Topics
- Brain Diseases
- Cerebral Cortex
- Classical Lissencephalies and Subcortical Band Heterotopias
- DNA Mutational Analysis
- High-Throughput Nucleotide Sequencing
- Humans
- Lissencephaly
- Mosaicism
- Mutation