Article
X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11.
European journal of human genetics : EJHG - 1 Jan 2007
Jensen Lars Riff, Lenzner Steffen, Moser Bettina, Freude Kristine, Tzschach Andreas, Wei Chen, Fryns Jean-Pierre, Chelly Jamel, Turner Gillian, Moraine Claude, Hamel Ben, Ropers Hans-Hilger, Kuss Andreas Walter
Abstract excerpt
About 30% of the mutations causing nonsyndromic X-linked mental retardation (MRX) are thought to be located in Xp11 and in the pericentromeric region, with a particular clustering of gene defects in a 7.4 Mb interval flanked by the genes ELK1 and ALAS2. To search for these mutations, 47 brain-expressed candidate genes located in this interval have been screened for mutations in up to 22 mental retardation (MR)...
Topics
- Blotting, Northern
- Cell Line
- Chromosomes, Human, X
- DNA Mutational Analysis
- Genes, X-Linked
- Humans
- Lymphocytes
- Male
- X-Linked Intellectual Disability
- Mutation