Mutation screening in a cohort of patients with lissencephaly and subcortical band heterotopia

dc.creatorTorres, FR
dc.creatorMontenegro, MA
dc.creatorMarques-de-Faria, AP
dc.creatorGuerreiro, MM
dc.creatorCendes, F
dc.creatorLopes-Cendes, I
dc.date2004
dc.date39873
dc.date2014-08-01T18:39:33Z
dc.date2015-11-26T18:03:41Z
dc.date2014-08-01T18:39:33Z
dc.date2015-11-26T18:03:41Z
dc.date.accessioned2018-03-29T00:45:38Z
dc.date.available2018-03-29T00:45:38Z
dc.identifierNeurology. Lippincott Williams & Wilkins, v. 62, n. 5, n. 799, n. 802, 2004.
dc.identifier0028-3878
dc.identifierWOS:000220083000025
dc.identifierhttp://www.repositorio.unicamp.br/jspui/handle/REPOSIP/81912
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/81912
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1292618
dc.descriptionThe 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.
dc.descriptiono TEXTO COMPLETO DESTE ARTIGO, ESTARÁ DISPONÍVEL À PARTIR DE AGOSTO DE 2015.
dc.description62
dc.description5
dc.description799
dc.description802
dc.languageen
dc.publisherLippincott Williams & Wilkins
dc.publisherPhiladelphia
dc.publisherEUA
dc.relationNeurology
dc.relationNeurology
dc.rightsembargo
dc.sourceWeb of Science
dc.subjectGene
dc.subjectDoublecortin
dc.titleMutation screening in a cohort of patients with lissencephaly and subcortical band heterotopia
dc.typeArtículos de revistas


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