Article
Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles.
American journal of human genetics - 1 Feb 2003
Nolin Sarah L, Brown W Ted, Glicksman Anne, Houck George E, Gargano Alice D, Sullivan Amy, Biancalana Valérie, Bröndum-Nielsen Karen, Hjalgrim Helle, Holinski-Feder Elke, Kooy Frank, Longshore John, Macpherson James, Mandel Jean-Louis, Matthijs Gert, Rousseau Francois, Steinbach Peter, Väisänen Marja-Leena, von Koskull Harriet, Sherman Stephanie L
Abstract excerpt
The CGG repeat in the 5' untranslated region of the fragile X mental retardation 1 gene (FMR1) exhibits remarkable instability upon transmission from mothers with premutation alleles. A collaboration of 13 laboratories in eight countries was established to examine four issues concerning FMR1 CGG-repeat instability among females with premutation (approximately 55-200 repeats) and intermediate (approximately 46-60...
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