Artículos de revistas
Mutation screening in a cohort of patients with lissencephaly and subcortical band heterotopia
Registro en:
Neurology. Lippincott Williams & Wilkins, v. 62, n. 5, n. 799, n. 802, 2004.
0028-3878
WOS:000220083000025
Autor
Torres, FR
Montenegro, MA
Marques-de-Faria, AP
Guerreiro, MM
Cendes, F
Lopes-Cendes, I
Institución
Resumen
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. o TEXTO COMPLETO DESTE ARTIGO, ESTARÁ DISPONÍVEL À PARTIR DE AGOSTO DE 2015. 62 5 799 802