Article
Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region.
American journal of human genetics - 9 Mar 2012
Lee Jong-Min, Gillis Tammy, Mysore Jayalakshmi Srinidhi, Ramos Eliana Marisa, Myers Richard H, Hayden Michael R, Morrison Patrick J, Nance Martha, Ross Christopher A, Margolis Russell L, Squitieri Ferdinando, Griguoli Annamaria, Di Donato Stefano, Gomez-Tortosa Estrella, Ayuso Carmen, Suchowersky Oksana, Trent Ronald J, McCusker Elizabeth, Novelletto Andrea, Frontali Marina, Jones Randi, Ashizawa Tetsuo, Frank Samuel, Saint-Hilaire Marie-Helene, Hersch Steven M, Rosas Herminia D, Lucente Diane, Harrison Madaline B, Zanko Andrea, Abramson Ruth K, Marder Karen, Sequeiros Jorge, MacDonald Marcy E, Gusella James F
Abstract excerpt
Age at the onset of motor symptoms in Huntington disease (HD) is determined largely by the length of a CAG repeat expansion in HTT but is also influenced by other genetic factors. We tested whether common genetic variation near the mutation site is associated with differences in the distribution of expanded CAG alleles or age at the onset of motor symptoms. To define disease-associated single-nucleotide...
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