Article
Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1).
Human mutation - 1 Jan 2002
Cardoso Carlos, Leventer Richard J, Dowling James J, Ward Heather L, Chung June, Petras Kristin S, Roseberry Jessica A, Weiss Ann M, Das Soma, Martin Christa Lese, Pilz Daniela T, Dobyns William B, Ledbetter David H
Abstract excerpt
Classical lissencephaly (LIS) and subcortical band heterotopia (SBH) are related cortical malformations secondary to abnormal migration of neurons during early brain development. Approximately 60% of patients with classical LIS, and one patient with atypical SBH have been found to have deletions or mutations of the LIS1 gene, located on 17p13.3. This gene encodes the LIS1 or PAFAH1B1 protein with a coiled-coil...
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