Contraction of fully expanded FMR1 alleles to the normal range: predisposing haplotype or rare events?

Fragile X syndrome (FXS), the most common cause of inherited intellectual disability, is due to the expansion over 200 CGGs and methylation of this polymorphic region, in the 5'-UTR (untranslated region) of FMR1 (Xq27.3). We have identified four FXS mosaic males: M1-(CGG)35/(CGG)>200; M2-(CG...

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Detalhes bibliográficos
Autor principal: Maia, N (author)
Outros Autores: Loureiro, JR (author), Oliveira, B (author), Marques, I (author), Santos, R (author), Jorge, P (author), Martins, S (author)
Formato: article
Idioma:eng
Publicado em: 2017
Assuntos:
Child
Child, Preschool
Fragile X Mental Retardation Protein/genetics
Fragile X Syndrome/genetics
Gene Frequency
Haplotypes/genetics
Humans
Male
Microsatellite Repeats/genetics
Middle Aged
Polymorphism, Single Nucleotide/genetics
Trinucleotide Repeats/genetics
Texto completo:http://hdl.handle.net/10216/114492
País:Portugal
Oai:oai:repositorio-aberto.up.pt:10216/114492

Texto Completo

http://hdl.handle.net/10216/114492

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