Article
Intracellular levels of the LIS1 protein correlate with clinical and neuroradiological findings in patients with classical lissencephaly.
Annals of neurology - 1 Feb 1999
Fogli A, Guerrini R, Moro F, Fernandez-Alvarez E, Livet M O, Renieri A, Cioni M, Pilz D T, Veggiotti P, Rossi E, Ballabio A, Carrozzo R
Abstract excerpt
We report on the genotype-phenotype correlation in 7 patients with classical lissencephaly carrying a heterozygous subtle mutation in the LIS1 gene. Six patients, showed a mutation predicted to encode for a truncated protein, and one mutation altered a splicing site, resulting in skipping of exon 4. Western blot analysis performed on the lymphoblastoid cell line of 2 patients bearing truncating mutations...
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