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Type: Artigo de periódico
Title: Mutation Screening In A Cohort Of Patients With Lissencephaly And Subcortical Band Heterotopia.
Author: Torres, F R
Montenegro, M A
Marques-De-Faria, A P
Guerreiro, M M
Cendes, F
Lopes-Cendes, I
Abstract: The authors describe clinical, neuroimaging and molecular findings in a group of 15 patients with classic lissencephaly (LIS) and subcortical band heterotopia (SBH). A 1385A-->C mutation was found in the LIS1 gene in one patient with LIS more severe than expected for individuals with missense mutations in LIS1. The authors believe that the site of the mutation, present in a functionally critical region of the protein, could explain the unusual severe phenotype found in this patient.
Subject: 1-alkyl-2-acetylglycerophosphocholine Esterase
Cerebral Cortex
Child, Preschool
Cohort Studies
Dna Mutational Analysis
Microtubule-associated Proteins
Mutation, Missense
Nervous System Malformations
Citation: Neurology. v. 62, n. 5, p. 799-802, 2004-Mar.
Rights: fechado
Date Issue: 2004
Appears in Collections:Unicamp - Artigos e Outros Documentos

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