[Causal mutation or rare polymorphism? Frequency of mutation not found in 3 chromosome is less than 3 divided by n].

Article

[Causal mutation or rare polymorphism? Frequency of mutation not found in 3 chromosome is less than 3 divided by n].

Annales de genetique - 1 Jan 1996

Jeanpierre M

Abstract excerpt

The problem of distinguishing rare polymorphism from deleterious mutations is an important question in molecular medicine. In order to estimate the frequency of a sequence variation, unrelated normal individuals are usually screened for the mutation concerned. A sequence variation that is not found in non-affected individuals becomes more likely to be the cause of the disease. The aim of this paper is to provide...

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