Researchers have developed an innovative new nanopore sequencing assay to identify carriers of fragile X syndrome (FXS), the leading cause of monogenic autism spectrum disorder and inherited ...
UC Davis MIND Institute researchers Randi and Paul Hagerman are calling for increased awareness and screening for fragile X-associated conditions. In a new paper published in the New England Journal ...
The FMR1 premutation (PM) is characterized by an expansion of 55 to 200 cytosine-guanine-guanine (CGG) trinucleotide repeats within the FMR1 gene, situated on the X chromosome. This mutation ...
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