Article
Analysis of lissencephaly-causing LIS1 mutations.
European journal of biochemistry - 1 Dec 1999
Sapir T, Eisenstein M, Burgess H A, Horesh D, Cahana A, Aoki J, Hattori M, Arai H, Inoue K, Reiner O
Abstract excerpt
Mutations in the LIS1 gene may result in severe abnormalities of brain cortical layering known as lissencephaly. Most lissencephaly-causing LIS1 mutations are deletions that encompass the entire gene, therefore the mechanism of the disease is regarded as haploinsufficiency. So far, 13 different intragenic mutations have been reported: one point mutation, H149R; deletion of exon 9, which results in deleted acids...
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