Study Detail

TitleDetecting AGG interruptions in male and female FMR1 premutation carriers by single-molecule sequencing
Study TypeOther
Abstract The FMR1 gene contains an unstable CGG repeat in its 5’ untranslated region. Premutation alleles ranging between 55-200 repeat units occur in the population with an estimated frequency of about 1 in 200 and are at risk for developing fragile X-associated tremor/ataxia syndrome or fragile X-associate .. [more]
Description The FMR1 gene contains an unstable CGG repeat in its 5’ untranslated region. Premutation alleles ranging between 55-200 repeat units occur in the population with an estimated frequency of about 1 in 200 and are at risk for developing fragile X-associated tremor/ataxia syndrome or fragile X-associate .. [more]
Center NameKU LEUVEN - UNIVERSITY OF LEUVEN