Data on the CGG repeat at the fragile X site in the non-retarded Japanese population and family suggest the presence of a subgroup of normal alleles predisposing to mutate
- 1 November 1993
- journal article
- Published by Springer Nature in Human Genetics
- Vol. 92 (5) , 431-436
- https://doi.org/10.1007/bf00216445
Abstract
No abstract availableKeywords
This publication has 19 references indexed in Scilit:
- Frequent small amplifications in the FMR-1 gene in fra(X) families: limits to the diagnosis of 'premutations'.Journal of Medical Genetics, 1992
- Comparison of the myotonic dystrophy associated CTG repeat in European and Japanese populations.Journal of Medical Genetics, 1992
- Evidence of founder chromosomes in fragile X syndromeNature Genetics, 1992
- Genetic variation at five trimeric and tetrameric tandem repeat loci in four human population groupsGenomics, 1992
- Fragile X syndrome: genetic localisation by linkage mapping of two microsatellite repeats FRAXAC1 and FRAXAC2 which immediately flank the fragile site.Journal of Medical Genetics, 1991
- Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradoxCell, 1991
- Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndromePublished by Elsevier ,1991
- Spontaneous mutation rates to new length alleles at tandem-repetitive hypervariable loci in human DNANature, 1988
- The marker (X) syndrome: a cytogenetic and genetic analysisAnnals of Human Genetics, 1984
- A model of mutation appropriate to estimate the number of electrophoretically detectable alleles in a finite populationGenetics Research, 1973