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Novel combined UGT1A1 mutations in Crigler Najjar Syndrome type I

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)...

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Detalles Bibliográficos
Autores principales:	Abdellaoui, Nawel, Abdelmoula, Balkiss, Abdelhedi, Rania, Kharrat, Najla, Tabebi, Mouna, Rebai, Ahmed, Bouayed Abdelmoula, Nouha
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2022
Materias:	Research Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9169181/ https://www.ncbi.nlm.nih.gov/pubmed/35527687 http://dx.doi.org/10.1002/jcla.24482

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