Trinucleotide repetition and fragile X syndrome
1Emory University School of Medicine, Atlanta, USA.
Abstract:
Insufficiently appreciated as a cause of learning disability and other behavioral problems, fragile X syndrome accounts for almost 10% of inherited mental retardation. Identification of the specific mutation as a dramatic trinucleotide expansion inaugurates an era of accurate diagnosis, and goes far toward explaining the syndrome's inheritance patterns, in which risk varies as the disease descends through a family.
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