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- W2152147789 abstract "In order to investigate the origin of the fragile X mutation in the Brazilian population, we assessed the size of the microsatellite markers DXS548, FRAXAC1 and FRAXAC2 in 72 X chromosomes from unrelated affected males and 64 control chromosomes. We found a significantly different distribution of alleles between fragile X and controls for loci DXS548 and FRAXAC1, but no apparent linkage disequilibrium was detected for the sequence FRAXAC2. The most frequent DXS548/FRAXAC1 haplotypes in affected males were haplotypes 204/158 bp (2-1) and 196/152 bp (6-4). These findings are in accordance with the proposed two main mutational pathways for the generation of FMR-1 alleles that predispose to instability and hyperexpansion. Am. J. Med. Genet. 84:204–207, 1999. © 1999 Wiley-Liss, Inc." @default.
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- W2152147789 date "1999-05-28" @default.
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- W2152147789 title "DXS548/FRAXAC1 haplotypes in fragile X chromosomes in the Brazilian population" @default.
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- W2152147789 doi "https://doi.org/10.1002/(sici)1096-8628(19990528)84:3<204::aid-ajmg7>3.0.co;2-j" @default.
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