Article
Sequence-Level Analysis of the Major European Huntington Disease Haplotype.
American journal of human genetics - 3 Sept 2015
Lee Jong-Min, Kim Kyung-Hee, Shin Aram, Chao Michael J, Abu Elneel Kawther, Gillis Tammy, Mysore Jayalakshmi Srinidhi, Kaye Julia A, Zahed Hengameh, Kratter Ian H, Daub Aaron C, Finkbeiner Steven, Li Hong, Roach Jared C, Goodman Nathan, Hood Leroy, Myers Richard H, MacDonald Marcy E, Gusella James F
Abstract excerpt
Huntington disease (HD) reflects the dominant consequences of a CAG-repeat expansion in HTT. Analysis of common SNP-based haplotypes has revealed that most European HD subjects have distinguishable HTT haplotypes on their normal and disease chromosomes and that ∼50% of the latter share the same major HD haplotype. We reasoned that sequence-level investigation of this founder haplotype could provide significant...
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