Article
The fragile (X) syndrome: the mutation problem.
American journal of medical genetics - 1 Jan 2000
Jacobs P A, Sherman S, Turner G, Webb T
Abstract excerpt
In an attempt to understand the nature of the mutational event leading to the fra(X) syndrome, we have searched for sporadic cases in 3 populations: affected males, affected females, and non-affected transmitting females. In all 3 populations there was a dearth of isolated cases, and the reasons for this are discussed.
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