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Article

Novel combined UGT1A1 mutations in Crigler Najjar Syndrome type I.

Journal of clinical laboratory analysis - 1 Jun 2022

Abdellaoui Nawel, Abdelmoula Balkiss, Abdelhedi Rania, Kharrat Najla, Tabebi Mouna, Rebai Ahmed, Bouayed Abdelmoula Nouha

Abstract excerpt

BACKGROUND: Uridine diphosphate-glucuronosyl transferase 1A1 (UGT1A1), which is the major UGT1 gene product, is located on chromosome 2q37. The expression of UGT1A1 is relatively managed by a polymorphic dinucleotide repeat inside the promoter TATA box consisting of 5-8 copies of a TA repeat. A (TA) 6TAA is considered as the wild type. The A (TA) 7TAA allele has been identified as the most frequent allele in the...

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PMID: 35527687
DOI: 10.1002/jcla.24482
PMCID: PMC9169181

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