Apparent regression of the CGG repeat in FMR1 to an allele of normal size

The fragile X syndrome is the result of amplification of a CGG trinucleotide repeat in the FMR1 gene and anticipation in this disease is caused by an intergenerational expansion of this repeat. Although regression of a CGG repeat in the premutation range is not uncommon, regression from a full premu...

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Veröffentlicht in:	Human genetics 1994-11, Vol.94 (5), p.523-526
Hauptverfasser:	Vits, L, De Boulle, K, Reyniers, E, Handig, I, Darby, J K, Oostra, B, Willems, P J
Format:	Artikel
Sprache:	eng
Schlagworte:	Alleles Female Fragile X Mental Retardation Protein Fragile X Syndrome - genetics Haplotypes Heterozygote Humans Male Mutation - genetics Nerve Tissue Proteins - genetics Pedigree Repetitive Sequences, Nucleic Acid - genetics RNA-Binding Proteins
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