Role of a homozygous A(TA)7TAA promoter polymorphism and an exon 1 heterozygous frameshift mutation UGT1A1 in Crigler-Najjar syndrome type II in a Thai neonate
Author:
Publisher
Genetics and Molecular Research
Subject
Genetics,Molecular Biology,General Medicine
Link
http://www.funpecrp.com.br/gmr/year2013/vol12-3/pdf/gmr2502.pdf
Cited by 5 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Type II Crigler-Najjar syndrome: a case report and literature review;Frontiers in Medicine;2024-05-09
2. Crigler-Najjar Syndrome: Current Perspectives and the Application of Clinical Genetics;Endocrine, Metabolic & Immune Disorders - Drug Targets;2018-04-02
3. Differences in UGT1A1 gene mutations and pathological liver changes between Chinese patients with Gilbert syndrome and Crigler-Najjar syndrome type II;Medicine;2017-11
4. A novel stop codon mutation in exon 1 (558C>A) of the UGT1A1 gene in a Thai neonate with Crigler-Najjar syndrome type I;Genetics and Molecular Research;2015
5. Compound heterozygosity of a novel exon 3 frameshift (p.R357P fs*24) mutation and Y486D mutation in exon 5 of the UGT1A1 gene in a Thai infant with Crigler-Najjar syndrome type 2;Genetics and Molecular Research;2015
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