High frequency of genomic deletions--and a duplication--in the LIS1 gene in lissencephaly: implications for molecular diagnosis. [electronic resource]
Producer: 20080811Description: 355-61 p. digitalISSN:- 1468-6244
- 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
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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