2. Academic Validation
  3. Hematologically important mutations: bilirubin UDP-glucuronosyltransferase gene mutations in Gilbert and Crigler-Najjar syndromes

Hematologically important mutations: bilirubin UDP-glucuronosyltransferase gene mutations in Gilbert and Crigler-Najjar syndromes

  • Blood Cells Mol Dis. 2006 Jan-Feb;36(1):77-80. doi: 10.1016/j.bcmd.2005.10.006.
Elísio Costa 1
Affiliations

Affiliation

  • 1 Escola Superior de Saúde do Instituto Politécnico de Bragança, Avenida D. Afonso V, 5300-121 Bragança, Portugal. [email protected]
PMID: 16386929 DOI: 10.1016/j.bcmd.2005.10.006
Abstract

Gilbert and Crigler-Najjar syndromes are familial unconjugated hyperbilirubinemias caused by genetic lesions involving a single complex locus encoding for bilirubin UDP-glucuronosyltransferase (UGT1A1) gene. Over the last years a number of different mutations affecting this gene have been characterized. In this report is provided a summary of reported Gilbert and Crigler-Najjar syndromes associated UGT1A1 gene mutations.

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