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There are a couple of reasons a single faulty copy can cause a disease

K.CalcuttN

Antioxidant properties of pyruvate mediate its potentiation of beta-adrenergic inotropism in stunned myocardium

Low Mr phosphotyrosine protein phosphatase interacts with the PDGF receptor directly via its catalytic site

A very helpful study

Chiou and Huang, 1999
