On signal sequence polymorphisms and diseases of distribution.

doi:10.1073/pnas.93.9.4471

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Article

On signal sequence polymorphisms and diseases of distribution.

Proceedings of the National Academy of Sciences of the United States of America - 30 Apr 1996

Rosenblum J S, Gilula N B, Lerner R A

Abstract excerpt

We report a previously unappreciated property of the signals that target organelle-specific proteins to their subcellular sites of action. Such targeting sequences are shown to be polymorphic. We discovered this polymorphism when we cloned the mitochondrial manganese-containing superoxide dismutase from cell lines of normal individuals and patients with genetic diseases of premature aging and compared their...

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