Browsing by Subject "Full-mutation"

Now showing items 1-2 of 2

    • FMR1 gene mutations in patients with fragile X syndrome and obligate carriers: 30 years of experience in Chile 
      Santa María Vásquez, Lorena; Aliaga Vera, Solange; Faúndes Gómez, Víctor; Morales Roldán, Paulina; Pugin Aguayo, Ángela; Curotto Liotta, Bianca; Soto Reyes, Paula; Peña, María Ignacia; Salas Aliaga, Isabel; Alliende Rodríguez, María Angélica (Cambridge University Press, 2016)
      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 ...
    • Identification of Males with Cryptic Fragile X Alleles by Methylation-Specific Quantitative Melt Analysis 
      Aliaga, Solange M.; Slater, Howard R.; Francis, David; Du Sart, Desiree; Li, Xin; Amor, David J.; Alliende, Angelica M.; Santa María Vásquez, Lorena; Faúndes Gómez, Víctor; Morales, Paulina; Trigo, Cesar; Salas, Isabel; Curotto, Bianca; Godler, David E. (Amer. Assoc. Clinical Chemistry, 2016)
      BACKGROUND: FMR1 full mutations (FMs) (CGG expansion >200) in males mosaic for a normal (<45 CGG) or gray-zone (GZ) (45-54 CGG) allele can be missed with the standard 2-step fragile X syndrome (FXS) testing protocols, ...