T C Cox

Summary

Affiliation: University of Adelaide
Country: Australia

Publications

  1. request reprint
    Cox T, Allen L, Cox L, Hopwood B, Goodwin B, Haan E, et al. New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome. Hum Mol Genet. 2000;9:2553-62 pubmed
    ..These new data and the finding of linkage to MID1 in the absence of a demonstrable open reading frame mutation in a further family support the conclusion that X-linked OS results from loss of function of MID1. ..
  2. request reprint
    Cox T, Sadlon T, Schwarz Q, Matthews C, Wise P, Cox L, et al. The major splice variant of human 5-aminolevulinate synthase-2 contributes significantly to erythroid heme biosynthesis. Int J Biochem Cell Biol. 2004;36:281-95 pubmed
    ..We conclude that the major splice isoform of ALAS2 is functional in vivo and could significantly contribute to erythroid heme biosynthesis and hemoglobin formation. ..