Detecting AGG Interruptions in Male and Female FMR1 Premutation Carriers by Single‐Molecule Sequencing
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DOI: 10.1002/humu.23150
Abstract: The FMR1 gene contains an unstable CGG repeat in its 5′ untranslated region. Premutation alleles range between 55 and 200 repeat units and confer a risk for developing fragile X‐associated tremor/ataxia syndrome or fragile X‐associated… read more here.
Keywords: premutation; molecule sequencing; single molecule; agg interruptions ... See more keywords