Variable FMR1 gene methylation of large expansions leads to variable phenotype in three males from one fragile X family.

The fragile X syndrome is caused by an expanded CGG repeat (> 200 units, full mutation) at the 5' end of the FMR1 gene, which is associated with methylation of a CpG island upstream of the FMR1 gene and down regulation of the transcription. We describe three related males with full mutations...

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Detalhes bibliográficos
Main Authors: de Vries, B B, Jansen, C C, Duits, A A, Verheij, C, Willemsen, R, van Hemel, J O, van den Ouweland, A M, Niermeijer, M F, Oostra, B A, Halley, D J
Formato: Artigo
Idioma:Inglês
Publicado em: 1996
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050811/
https://ncbi.nlm.nih.gov/pubmed/9004132
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