Article
Sequence variants within exon 1 of MECP2 occur in females with mental retardation.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 5 Apr 2007
Harvey Chris G, Menon Sailesh D, Stachowiak Beata, Noor Abdul, Proctor Adam, Mensah Albert K, Mnatzakanian Gevork N, Alfred Simon E, Guo Ray, Scherer Stephen W, Kennedy James L, Roberts Wendy, Srivastava Anand K, Srivistava Anand K, Minassian Berge A, Vincent John B
Abstract excerpt
A new splice variant of the Rett syndrome gene, MECP2, was recently identified, that includes coding sequence from exon 1, and is the predominant transcript in the central nervous system. This sequence encodes polyalanine and polyglycine stretches within the N-terminal portion of MeCP2, and may confer novel functional properties to the protein. We screened autism, mental retardation (MR), and control populations...
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