Associated Papers
The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene.
Cardoso C et al.
Human Molecular Genetics, 2000
Lissencephaly associated mutations suggest a requirement for the PAFAH1B heterotrimeric complex in brain development.
Sweeney KJ et al.
Mechanisms of Development, 2000
Analysis of lissencephaly-causing LIS1 mutations.
Sapir T et al.
European Journal of Biochemistry, 1999
LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation.
Pilz DT et al.
Human Molecular Genetics, 1998
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