A case report of a novel 22 bp duplication within exon 1 of the UGT1A1 in a Sudanese infant with Crigler-Najjar syndrome type I

BACKGROUND: Crigler Najjar type 1 is a rare autosomal recessive condition caused by the absence of UDPGT enzyme due to mutations in the UGT1A1 gene. This enzyme is responsible for elimination of unconjugated bilirubin from the body by glucuronidation. Affected individuals are at risk for kernicterus...

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Detalles Bibliográficos
Autores principales: Valmiki, Sailaja, Mandapati, Kiran Kumar, Miriyala, Leela Krishna Vamsee, Kelgeri, Chayarani Chandrashekhar, Rela, Mohamed, Shanmugam, Naresh P., Vegulada, Durga Rao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7060512/
https://www.ncbi.nlm.nih.gov/pubmed/32143638
http://dx.doi.org/10.1186/s12876-020-01192-4

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