Identification of a novel deletion in UDP-glucuronosyltransferase gene in a patient with Crigler-Najjar syndrome type I.

• Authors: Elísio Costa, Emília Vieira, Ana Isabel Lopes, Maria Joana Saldanha, Dora Brites, Rosário Dos Santos
• Journal: Blood cells, molecules & diseases (Blood Cells Mol Dis) 2009 May-Jun Vol. 42 Issue 3 Pg. 265-6 ISSN: 1096-0961 [Electronic] United States
• PMID: 19217809 (Publication Type: Case Reports, Letter)

Chemical References

• UGT1A1 enzyme
• Glucuronosyltransferase

Topics

• Adult
• Amino Acid Sequence
• Base Sequence
• Crigler-Najjar Syndrome (genetics)
• Exons (genetics)
• Female
• Genotype
• Glucuronosyltransferase (deficiency, genetics)
• Humans
• Hyperbilirubinemia, Neonatal (etiology, genetics)
• Infant, Newborn
• Male
• Molecular Sequence Data
• Pedigree
• Sequence Deletion