Genetic Heterogeneity

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Abstract
Quantitative HeterogeneityAlthough some progress is being made, it is impossible to visualize most human genetic variations in terms of differences in the amino acid sequence or of other qualities of relevant proteins. Failing that, the next best is to discover and characterize some aspect of the activity or function of such molecules. If, for example, the activity of an enzyme is reduced, several possible inferences are justifiable: an alteration of the molecule itself has reduced its efficiency; synthesis of the protein is reduced; or the reaction is inhibited in some way. It is evident that at this level of . . .