Analysis of UGT1A1 genotype-phenotype correlation in Chinese patients with gilbert and crigler-Najjar II syndrome
Author:
Funder
National Natural Science Foundation of China
Beijing Hospital Authority
Digestive Medical Coordinated Development Center of Beijing Hospitals Authority
Publisher
Elsevier BV
Reference31 articles.
1. UGT1A1 genotypes and unconjugated hyperbilirubinemia phenotypes in post-neonatal Chinese children: a retrospective analysis and quantitative correlation;Abuduxikuer;Medicine (Baltim.),2018
2. Profiling of UGT1A1 * 6, UGT1A1 * 60, UGT1A1 * 93, and UGT1A1 * 28 polymorphisms in Indonesian neonates with hyperbilirubinemia using multiplex PCR sequencing;Amandito;Front Pediatr,2019
3. Targeted next generation sequencing revealed a novel homozygous loss-of-function mutation in ILDR1 gene causes autosomal recessive nonsyndromic sensorineural hearing loss in a Chinese family;An;Front. Genet.,2019
4. Identification of defect in the genes for bilirubin UDP-glucuronosyl-transferase in a patient with Crigler-Najjar syndrome type II;Aono;Biochem. Biophys. Res. Commun.,1993
5. Next-generation sequencing detection and characterization of a heterozygous novel splice junction mutation in the 2B domain of KRT1 in a family with diffuse palmoplantar keratoderma;Banerjee;Exp. Dermatol.,2015
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