Article
FMR1 gene mutations in patients with fragile X syndrome and obligate carriers: 30 years of experience in Chile.
Genetics research - 28 Jun 2016
Santa María Lorena, Aliaga Solange, Faundes Víctor, Morales Paulina, Pugin Ángela, Curotto Bianca, Soto Paula, Peña M Ignacia, Salas Isabel, Alliende M Angélica
Abstract excerpt
Fragile X syndrome (FXS) is the most common form of inherited intellectual disability (ID) and co-morbid autism. It is caused by an amplification of the CGG repeat (>200), which is known as the full mutation, within the 5'UTR of the FMR1 gene. Expansions between 55-200 CGG repeats are termed premutation and are associated with a greater risk for fragile X-associated tremor/ataxia syndrome and fragile X-associated...
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