Article
Genetic modifiers of Mendelian disease: Huntington's disease and the trinucleotide repeat disorders.
Human molecular genetics - 1 Oct 2017
Holmans Peter A, Massey Thomas H, Jones Lesley
Abstract excerpt
In the decades since the genes and mutations associated with the commoner Mendelian disorders were first discovered, technological advances in genetic analysis have made finding genomic variation a much less onerous task. Recently, the global efforts to collect subjects with Mendelian disorders, to better define the disorders and to empower appropriate clinical trials, along with improved genetic technologies,...
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