Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations?. Issue 5 (1st May 2003)

• Record Type: Journal Article
• Authors: 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
• Is Part Of: Journal of medical genetics. Volume 40:Issue 5(2003)
• Page Start: e52
• Page End: e52
• Publication Date: 2003-05-01
• Subjects: MECP2 mutations -- mild phenotype -- Rett syndrome -- population based register; DHPLC, denaturing high performance liquid chromatography -- EDTA, ethylene diamine tetraacetic acid -- FQ2000, Australian follow up 2000 study instrument -- MBD, methyl binding domain -- MeCP2, methyl-CpG-binding protein 2 -- NLS, nuclear localisation signal -- PCR, polymerase chain reaction -- RettBASE, IRSA MECP2 gene variation database -- TRD, transcription repression domain -- WeeFIM, functional independence measure for children; Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.40.5.e52
• Languages: English
• ISSNs: 1468-6244