Fragile X full mutation expansions are inhibited by one or more AGG interruptions in premutation carriers

Sarah L. Nolin, Anne Glicksman, Nicole Ersalesi, Carl Dobkin, W. Ted Brown, Ru Cao, Eliot B. Blatt, Sachin Sah, Gary J. Latham, Andrew G. Hadd

Genetics in Medicine · 2014 · 135 citations · 26 references

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Abstract

These results strengthen the association of AGG repeats with CGG repeat stability and provide more accurate risk estimates of full mutation expansions for women with 45-90 repeat alleles.

References

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