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
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DOI: 10.1186/s12876-020-01192-4
Abstract: 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… read more here.
Keywords: crigler najjar; duplication; case; exon ugt1a1 ... See more keywords