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-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

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

Published:2015 Issue:2 Volume:14 Page:3293-3299
ISSN:1676-5680
Container-title:Genetics and Molecular Research
language:
Short-container-title:Genet. Mol. Res.

Author:

Tesapirat L.,Nilyanimit P.,Wanlapakorn N.,Poovorawan Y.

Publisher

Genetics and Molecular Research

Subject

Genetics,Molecular Biology,General Medicine

Link

http://www.funpecrp.com.br/gmr/year2015/vol14-2/pdf/gmr4801.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. Case report: multiple UGT1A1 gene variants in a patient with Crigler-Najjar syndrome;BMC Pediatrics;2018-10-03

3. Crigler-Najjar Syndrome: Current Perspectives and the Application of Clinical Genetics;Endocrine, Metabolic & Immune Disorders - Drug Targets;2018-04-02

4. Germline genetic variants with implications for disease risk and therapeutic outcomes;Physiological Genomics;2017-10-01

5. Analysis of uridine diphosphate glucuronosyl transferase 1A1 gene mutations in neonates with unconjugated hyperbilirubinemia;Genetics and Molecular Research;2016

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370

www.globalauthorid.com

TOP