Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations?

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Veröffentlicht in:	Journal of medical genetics 2003-05, Vol.40 (5), p.e52-52
Hauptverfasser:	Leonard, H, Colvin, L, Christodoulou, J, Schiavello, T, Williamson, S, Davis, M, Ravine, D, Fyfe, S, de Klerk, N, Matsuishi, T, Kondo, I, Clarke, A, Hackwell, S, Yamashita, Y
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Age of Onset Australia Australian follow up 2000 study instrument Child Child, Preschool Chromosomal Proteins, Non-Histone denaturing high performance liquid chromatography DHPLC DNA Mutational Analysis DNA-Binding Proteins - genetics Dosage Compensation, Genetic EDTA Electronic Letter ethylene diamine tetraacetic acid FQ2000 functional independence measure for children Genotype Genotype & phenotype Humans IRSA MECP2 gene variation database Japan MBD MeCP2 MECP2 mutations methyl binding domain Methyl-CpG-Binding Protein 2 mild phenotype Mutation Mutation, Missense - genetics NLS nuclear localisation signal PCR Phenotype polymerase chain reaction population based register Repressor Proteins Rett syndrome Rett Syndrome - genetics Rett Syndrome - physiopathology RettBASE transcription repression domain TRD United Kingdom WeeFIM
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