Biochemical genetics: examples of life after cloning

The blend of biochemistry and molecular biology required to understand the pathogenesis of genetic disease is assuming an increasing role in research. We review three example of this inevitable post-cloning trend: first, the surprising relationship between mice with albino deletions and human hereditary tyrosinemia type I; second, the discovery that choroideremia is due to defect in prenylation; and third, fibrillin mutations in the Marfan syndrome.