Normal phenotype in two brothers with a full FMR1 mutation

The fragile X syndrome is associated with an expanding CGG repeat in the 5' untranslated region of the first exon of the FMR1 gene. Subsequent methylation of the promoter region inhibits expression of the FMR1 gene. In two clinically normal brothers large, expanded CGG repeats and cytogenetical...

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Veröffentlicht in:	Human molecular genetics 1995-11, Vol.4 (11), p.2103-2108
Hauptverfasser:	Smeets, H.J.M., Smits, A.P.T., Verheij, C.E., Theelen, J.P.G., Willemsen, R., Burgt, I.van de, Hoogeveen, A.T., Oosterwijk, J.C., Oostra, B.A.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Aged Biological and medical sciences Chromosome fragility (bloom syndrome, ataxia telangiectasia, fanconi anemia, x-linked mental retardation...) Chromosome Mapping Female Fragile X Mental Retardation Protein Fragile X Syndrome - genetics Gene Expression Humans Male Medical genetics Medical sciences Mutation Nerve Tissue Proteins - genetics Pedigree Phenotype RNA-Binding Proteins Trinucleotide Repeats - genetics
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