Article

Identification of three novel variants in the UGT1A1 gene as a cause of Crigler-Najjar syndrome type 1

2022-06-11

Abstract excerpt

Crigler-Najjar syndrome type I (CN-I) is a rare inherited disorder with a frequency of one per million at birth. Patients with CN-I have severe hyperbilirubinemia and usually die due to kernicterus. CN-I occurs due to variants within the UGT1A1 gene. The present study aimed to identify genetic defects underlying CN-I.

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Literature Corpus work: 39452c25-587e-5c15-aef8-3248fd394a54
DOI: 10.22541/au.165494002.26199434/v1

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