Trends in genetics, 2003-06, Vol.19 (6), p.316-320
2003
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- Autor(en) / Beteiligte
- Titel
- Nonsyndromic X-linked mental retardation: where are the missing mutations?
- Ist Teil von
- Trends in genetics, 2003-06, Vol.19 (6), p.316-320
- Ort / Verlag
- Oxford: Elsevier Ltd
- Erscheinungsjahr
- 2003
- Quelle
- MEDLINE
- Beschreibungen/Notizen
- Analysis of linkage intervals from 125 unrelated families with nonsyndromic X-linked mental retardation (NS-XLMR) has revealed that the respective gene defects are conspicuously clustered in defined regions of the human X-chromosome, with approximately 30% of all mutations being located on the proximal Xp. In 83% of these families, underlying gene defects are not yet known. Our observations should speed up the search for mutations that are still missing and pave the way for the molecular diagnosis of this common disorder.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 0168-9525DOI: 10.1016/S0168-9525(03)00113-6Titel-ID: cdi_hal_primary_oai_HAL_hal_04152593v1
- Format
- –
- Schlagworte
- Biological and medical sciences, Cell physiology, Cell transformation and carcinogenesis. Action of oncogenes and antioncogenes, Chromosomes, Human, X, Fundamental and applied biological sciences. Psychology, Genetic Linkage, Genetics, Humans, Life Sciences, Mental Retardation, X-Linked - genetics, Molecular and cellular biology, Mutation - genetics, Neurons and Cognition, Phenotype