Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/196137
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
Adolescent
Adult
Cerebral Cortex
Child
Child, Preschool
Cohort Studies
Dna Mutational Analysis
Female
Humans
Infant
Male
Microtubule-associated Proteins
Mutation, Missense
Nervous System Malformations
Phenotype
Rights: fechado
Identifier DOI: 
Address: http://www.ncbi.nlm.nih.gov/pubmed/15007136
Date Issue: 2004
Appears in Collections:Unicamp - Artigos e Outros Documentos

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