High frequency of genomic deletions--and a duplication--in the LIS1 gene in lissencephaly: implications for molecular diagnosis.

Mei, D

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