Associated Papers
MECP2e1 isoform mutation affects the form and function of neurons derived from Rett syndrome patient iPS cells.
Djuric U et al.
Neurobiology of Disease, 2015
MECP2 deletions and genotype-phenotype correlation in Rett syndrome.
Scala E et al.
American Journal of Medical Genetics. Part A, 2007
Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2.
Saxena A et al.
Journal of Medical Genetics, 2006
Clinical profiles of four patients with Rett syndrome carrying a novel exon 1 mutation or genomic rearrangement in the MECP2 gene.
Bartholdi D et al.
Clinical Genetics, 2006
Mutations found within exon 1 of MECP2 in Danish patients with Rett syndrome.
Ravn K et al.
Clinical Genetics, 2005
Deleterious mutations in exon 1 of MECP2 in Rett syndrome.
Quenard A et al.
European Journal of Medical Genetics, 0
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