Widened clinical spectrum of the Q128PMECP2mutation in Rett syndrome
β Scribed by P. F. Giampietro; D. B. Schowalter; S. Merchant; L. R. Campbell; T. Swink; B. B. Roa
- Publisher
- Springer
- Year
- 2005
- Tongue
- English
- Weight
- 183 KB
- Volume
- 22
- Category
- Article
- ISSN
- 0256-7040
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Mutations in the MECP2 (Methyl-CpG-binding protein) gene recently have been reported to cause Rett syndrome (RTT), an X-linked dominant neurodevelopmental disease. We investigated 125 sporadic cases of Rett syndrome by direct sequencing. Thirty different mutations were found in 97 patients with Rett
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