The Genetic Basis of Gilbert's Syndrome

To the Editor: In the study by Bosma et al. (Nov. 2 issue) 1 of the genetic basis of Gilbert's syndrome, the relevance of the variant TATAA element is far from certain. The authors do not provide data or cite references that demonstrate that a quantitative reduction in bilirubin UDP-glucuronosy...

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Veröffentlicht in:The New England journal of medicine 1996-03, Vol.334 (12), p.802-803
Hauptverfasser: Mathew, Paul, Bosma, Piter J, Oostra, Ben A
Format: Artikel
Sprache:eng
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Zusammenfassung:To the Editor: In the study by Bosma et al. (Nov. 2 issue) 1 of the genetic basis of Gilbert's syndrome, the relevance of the variant TATAA element is far from certain. The authors do not provide data or cite references that demonstrate that a quantitative reduction in bilirubin UDP-glucuronosyltransferase 1 (bilirubin/uridine diphosphoglucuronate-glucuronosyltransferase 1) in patients with Gilbert's syndrome is related to transcriptional rather than translational or post-translational mechanisms. Furthermore, the normal functional characteristics of the native promoter are not made clear. Is transcription regulated by constitutive or inducible mechanisms? this point is relevant because the experiments were restricted to four . . .
ISSN:0028-4793
1533-4406
DOI:10.1056/NEJM199603213341217