Article
The fragile X syndrome: no evidence for any recent mutations.
Journal of medical genetics - 1 Feb 1993
Smits A P, Dreesen J C, Post J G, Smeets D F, de Die-Smulders C, Spaans-van der Bijl T, Govaerts L C, Warren S T, Oostra B A, van Oost B A
Abstract excerpt
Fragile X (fra(X)) syndrome, the most common form of familial mental retardation, is caused by heritable unstable DNA composed of CGG repeats. As reproductive fitness of fra(X) patients is severely compromised, a high mutation rate has been proposed to explain the high prevalence. However, we have been unable to show any new mutation for 84 probands referred to us to date. We show here the same fra(X) gene in...
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