Coding defect and a TATA box mutation at the bilirubin UDP-glucuronosyltransferase gene cause Crigler-Najjar type I disease.

@article{Ciotti1998CodingDA,
  title={Coding defect and a TATA box mutation at the bilirubin UDP-glucuronosyltransferase gene cause Crigler-Najjar type I disease.},
  author={M. Ciotti and Fan Chen and Firmino F. Rubaltelli and Ida S. Owens},
  journal={Biochimica et biophysica acta},
  year={1998},
  volume={1407 1},
  pages={40-50}
}
Mutations at the bilirubin UDP-glucuronosyltransferase (transferase) gene in a severely hyperbilirubinemic Crigler-Najjar (CN) type I individual was compared with that in a moderately hyperbilirubinemic CN II individual. The CN-I (CF) patient in this study sustained a TATA box insertional mutation which was paired with a coding defect at the second allele, unlike all coding defects previously seen in CN-I patients. The sequence of the mutant TATA box, [A(TA)8A], also seen in the CN-II patient… CONTINUE READING

Citations

Publications citing this paper.
Showing 1-10 of 22 extracted citations

Similar Papers

Loading similar papers…