2000-05-01
Fragile X syndrome at the turn of the century
Publication
Publication
Molecular Medicine Today , Volume 6 - Issue 5 p. 193- 198
Fragile X syndrome is not only the most common form of inherited cognitive impairment, it is also one of the most frequent single gene disorders. It is caused by a stretch of CGG-repeats within the fragile X gene, which increases in length as it is transmitted from generation to generation. Once the repeat exceeds a threshold length, no fragile X protein is produced and disease results. Since the mutation was discovered, nearly a decade of research has revealed a wealth of information regarding the fragile X gene and its possible function within the cell. The fragile X story also provides a sobering example of how much time and effort might be necessary to develop beneficial treatment through understanding gene function.
Additional Metadata | |
---|---|
doi.org/10.1016/S1357-4310(00)01674-9, hdl.handle.net/1765/54694 | |
Molecular Medicine Today | |
Organisation | Department of Clinical Genetics |
Kooy, F., Willemsen, R., & Oostra, B. (2000). Fragile X syndrome at the turn of the century. Molecular Medicine Today (Vol. 6, pp. 193–198). doi:10.1016/S1357-4310(00)01674-9 |