The fragile X mutation involves expression of a CGG repeat stretch in the 5a#39; encoding region of FMR1. ... were diagnosed as having fragile X syndrome, and the mother, sister, uncle, and maternal grandmother as fragile X premutation carriers.
Title | : | Clinical Studies in Medical Biochemistry |
Author | : | Department of Biochemistry University of New Mexico Robert H. Glew Professor and Chairman, Miriam D. Rosenthal Professor of Biochemistry Eastern Virginia Medical School |
Publisher | : | Oxford University Press, USA - 2006-08-07 |
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