title: Biochemical genetics: examples of life after cloning.
abstract: 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.
authors.affiliation: Department of Genetics, Hospital for Sick Children, Toronto, Ontario, Canada.
authors.forename: R R
authors.initials: RR
authors.lastname: McInnes
authors.forename: P H
authors.initials: PH
authors.lastname: Byers
mesh_terms: D000818:Animals; D015794:Choroideremia / Q000235:genetics* / Q000378:metabolism; D003001:Cloning, Molecular; D000071837:Fibrillins; D006801:Humans; D008382:Marfan Syndrome / Q000235:genetics*; D008840:Microfilament Proteins / Q000235:genetics*; D011499:Protein Processing, Post-Translational; D014443:Tyrosine / Q000097:blood*
chemical_list: D000071837:Fibrillins; D008840:Microfilament Proteins; D014443:Tyrosine