TY  - GEN
AU  - Mei,D
AU  - Lewis,R
AU  - Parrini,E
AU  - Lazarou,L P
AU  - Marini,C
AU  - Pilz,D T
AU  - Guerrini,R
TI  - High frequency of genomic deletions--and a duplication--in the LIS1 gene in lissencephaly: implications for molecular diagnosis
SN  - 1468-6244
PY  - 2008///0811
KW  - 1-Alkyl-2-acetylglycerophosphocholine Esterase
KW  - genetics
KW  - Base Sequence
KW  - Brain
KW  - pathology
KW  - Child
KW  - Child, Preschool
KW  - Chromosome Breakage
KW  - Chromosomes, Human, Pair 17
KW  - DNA Mutational Analysis
KW  - Gene Duplication
KW  - Genome, Human
KW  - Humans
KW  - In Situ Hybridization, Fluorescence
KW  - Infant
KW  - Lissencephaly
KW  - diagnosis
KW  - Magnetic Resonance Imaging
KW  - Microtubule-Associated Proteins
KW  - Molecular Sequence Data
KW  - Polymerase Chain Reaction
KW  - Sequence Deletion
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1136/jmg.2007.056507
ER  -