Prenatal diagnosis of the fragile X syndrome: loss of mutation owing to a double recombinant or gene conversion event at the FMR1 locus.

The fragile X syndrome, an X linked mental retardation syndrome, is caused by an expanded CGG repeat in the first exon of the FMR1 gene. In patients with an expanded repeat the FMR1 promoter is methylated and, consequently, the gene is silenced and no FMR1 protein (FMRP) is produced, thus leading to...

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Main Authors: Losekoot, M, Hoogendoorn, E, Olmer, R, Jansen, C C, Oosterwijk, J C, van den Ouweland, A M, Halley, D J, Warren, S T, Willemsen, R, Oostra, B A, Bakker, E
Formato: Artigo
Idioma:Inglês
Publicado: 1997
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Research Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051121/
https://ncbi.nlm.nih.gov/pubmed/9391887
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