Article
MECP2 gene study in a large cohort: testing of 240 female patients and 861 healthy controls (519 females and 342 males).
The Journal of molecular diagnostics : JMD - 1 Sept 2013
Maortua Hiart, Martínez-Bouzas Cristina, García-Ribes Ainhoa, Martínez María-Jesus, Guillen Encarna, Domingo María-Rosario, Calvo María-Teresa, Guitart Miriam, Gabau Elisabeth, Botella María-Pilar, Gener Blanca, Rubio Izaskun, López-Aríztegui María-Asunción, Tejada María-Isabel
Abstract excerpt
The MECP2 gene located on Xq28 is one of the most important genes contributing to the spectrum of neurodevelopmental disorders. Therefore, we present our experience in the molecular study of this gene. MECP2 was thoroughly tested for the presence of mutations (sequencing of four exons and rearrangements) in 120 female patients: 28 with classic Rett syndrome, five with atypical Rett syndrome, and 87 with...
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