Title : A Novel Pathogenic UGT1A1 Variant in a Sudanese Child with Type 1 Crigler-Najjar Syndrome.

Pub. Date : 2019 Jan

PMID : 30385458






1 Functional Relationships(s)
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1 CN-1 is an autosomal recessive disorder caused by damaging mutations in the gene for UGT1A1, the hepatic enzyme responsible for bilirubin conjugation in humans. Bilirubin UDP glucuronosyltransferase family 1 member A1 Homo sapiens