Article
Homozygotes for Huntington's disease.
Nature - 1 Jan 2000
Wexler N S, Young A B, Tanzi R E, Travers H, Starosta-Rubinstein S, Penney J B, Snodgrass S R, Shoulson I, Gomez F, Ramos Arroyo M A
Abstract excerpt
Careful comparison of symptomatic individuals with normal controls has revealed the primary biochemical abnormality in many human genetic diseases, particularly recessive disorders. This strategy has proved less successful for most human disorders which are not recessive, and where a single copy of the aberrant gene has clinically significant effects even though the normal gene product is present. An alternative...
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