High frequency of genomic deletions--and a duplication--in the LIS1 gene in lissencephaly: implications for molecular diagnosis. [electronic resource]
- Journal of medical genetics Jun 2008
- 355-61 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1468-6244
10.1136/jmg.2007.056507 doi
1-Alkyl-2-acetylglycerophosphocholine Esterase--genetics Base Sequence Brain--pathology Child Child, Preschool Chromosome Breakage Chromosomes, Human, Pair 17--genetics DNA Mutational Analysis Gene Duplication Genome, Human--genetics Humans In Situ Hybridization, Fluorescence Infant Lissencephaly--diagnosis Magnetic Resonance Imaging Microtubule-Associated Proteins--genetics Molecular Sequence Data Polymerase Chain Reaction Sequence Deletion--genetics