Identification of 11 novel mutations in 49 Korean patients with mucopolysaccharidosis type II
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2011.01641.x/fullpdf
Reference28 articles.
1. Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA.;Wilson;Proc Natl Acad Sci USA,1990
2. A clinical and genetic study of Hunter's syndrome. 2. Differences between the mild and severe forms.;Young;J Med Genet,1982
3. Evidence for an iduronate-sulfatase pseudogene near the functional Hunter syndrome gene in Xq27.3-q28.;Rathmann;Hum Genet,1995
4. Japan Elaprase treatment (JET) study: idursulfase enzyme replacement therapy in adult patients with attenuated Hunter syndrome (Mucopolysaccharidosis II, MPS II).;Okuyama;Mol Genet Metab
5. Molecular and phenotypic variation in patients with severe Hunter syndrome.;Timms;Hum Mol Genet,1997
Cited by 26 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. Clinical characteristics and genotypes of 201 patients with mucopolysaccharidosis type II in China: A retrospective, observational study;Clinical Genetics;2023-03-22
2. Detection of Structural Variants by NGS: Revealing Missing Alleles in Lysosomal Storage Diseases;Biomedicines;2022-07-29
3. Skewed X-Chromosome Inactivation in a Korean Girl with Severe Mucopolysaccharidosis Type II;Annals of Laboratory Medicine;2022-05-01
4. Probability of high-risk genetic matching with oocyte and semen donors: complete gene analysis or genotyping test?;Journal of Assisted Reproduction and Genetics;2022-01-29
5. Molecular analysis and novel variation identification of Chinese pedigrees with mucopolysaccharidosis using targeted next-generation sequencing;Clinica Chimica Acta;2022-01
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
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3