Journal of medical genetics, 2004-06, Vol.41 (6), p.e85-e85
2004
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Details
- Autor(en) / Beteiligte
- Titel
- Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome: a cohort of 171 cases
- Ist Teil von
- Journal of medical genetics, 2004-06, Vol.41 (6), p.e85-e85
- Ort / Verlag
- England: BMJ Publishing Group Ltd
- Erscheinungsjahr
- 2004
- Quelle
- MEDLINE
- Sprache
- Englisch
- Identifikatoren
- ISSN: 0022-2593, 1468-6244eISSN: 1468-6244DOI: 10.1136/jmg.2003.014480Titel-ID: cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1735791
- Format
- –
- Schlagworte
- C-terminal domain, Child, Child, Preschool, Children & youth, Chromosomal Proteins, Non-Histone, Cohort Studies, CTD, DNA-Binding Proteins - genetics, Female, Genes, Genetic Testing, Genotype, Genotype & phenotype, Humans, Intellectual disabilities, Male, MBD, MECP2 gene, mental retardation, methyl binding domain, Methyl-CpG-Binding Protein 2, Microcephaly, molecular genetics, Mutation, NLS, nuclear localisation signal, Online Mutation Report, Patients, Proteins, Repressor Proteins, Retrospective Studies, Rett syndrome, Rett Syndrome - diagnosis, Rett Syndrome - genetics, Rett Syndrome Diagnostic Criteria Work Group, RSDCWG, RTT, transcription repression domain, TRD