2010-10-20
Experimental approaches towards therapeutic interventions for fragile X syndrome
Publication
Publication
Experimentele benaderingen richting therapeutische interventies voor fragiele X syndroom
Fragile X syndrome (FXS) is one of the most common inherited forms of intellectual disability. It affects on average 1/4000 males and 1/7000 females. FXS was described for the first time in 1943 by Martin and Bell. They reported a family with an inherited form of mental retardation that was linked to a sex chromosome, hence mainly males were affected. In 1969, the syndrome was linked to the X chromosome. Karyotyping of cells from patients revealed a fragile site at the end of the long arm of the X chromosome at position q27.3. Finally, the gene involved in FXS was discovered in 1991. It was called fragile X mental retardation 1 (FMR1) gene (Verkerk et al., 1991).
| Additional Metadata | |
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| , , , | |
| Erasmus MC Rotterdam,J.E. Jurriaanse Stichting | |
| B.A. Oostra (Ben) | |
| Erasmus University Rotterdam | |
| hdl.handle.net/1765/21244 | |
| Organisation | Erasmus MC: University Medical Center Rotterdam |
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Levenga, J. (2010, October 20). Experimental approaches towards therapeutic interventions for fragile X syndrome. Retrieved from http://hdl.handle.net/1765/21244 |
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| Additional Files | |
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| 101020_Levenga, Geertruida Josien.pdf Final Version , 4mb | |
| FilmpjeComp.avi Final Version , 1mb | |
| 3177_Levenga, Geertruida Josien.jpg Cover Image , 33kb | |
| stellingen levenga.pdf , 26kb | |
