Article
Trinucleotide repeat disorders in pediatrics.
Current opinion in pediatrics - 1 Dec 1995
O'Donnell D M, Zoghbi H Y
Abstract excerpt
The relationship between the expansion of trinucleotide repeat sequences and human disease hs been the subject of a significant volume of study since the identification of a CGG repeat sequence in the mutated gene responsible for the fragile X syndrome. Six other neurologic diseases are now known to result from a triplet repeat expansion of either CTG or CAG nucleotides. Of particular interest to the pediatrician...
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