The use of fructose 1-phosphate to detect Hunter heterozygotes in fibroblast cultures from high-risk carriers

Author:

T�nnesen T.

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Reference12 articles.

1. Danes BS, Bearn AG (1967) Hunter's syndrome: a genetic study of clones in cell culture with particular reference to the Lyon hypothesis. J Exp Med 126:509?523

2. Francke U, Felsenstein J, Gartler M, Migeon BR, Dancis J, Seegmiller JE, Bakay F, Nyhan WL (1976) The occurrence of new mutants in the X-linked recessive Lesch-Nyhan disease. Am J Hum Genet 28:123?137

3. Fratantoni JC, Hall C-W, Neufeld EF (1968) The defect in Hurler's and Hunter's syndromes: Faulty degradation of mucopolysaccharide. Proc Natl Acad Sci USA 60:699?706

4. Fratantoni JC, Hall C-W, Neufeld EF (1969) The defect in Hurler and Hunter syndromes. II. Deficiency of specific factors involved in mucopolysaccharide degradation. Proc Natl Acad Sci USA 64:360?366

5. Hobolth N, Pedersen C (1978) Six cases of a mild form of the Hunter syndrome in five generations. Three affected males with progeny. Clin Genet 13:121

Cited by 7 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 and biochemical studies in mucopolysaccharidosis type II carriers;Journal of Inherited Metabolic Disease;2009-10-10

2. Glycosaminoglycan Degradation;Advances in Enzymology - and Related Areas of Molecular Biology;2006-11-22

3. Reassessment of biochemically determined Hunter syndrome carrier status by DNA testing.;Journal of Medical Genetics;1998-08-01

4. Carrier detection of Hunter syndrome (MPS II) by biochemical and DNA techniques in families at risk.;Journal of Medical Genetics;1993-03-01

5. Segregation and sporadic cases in families with Hunter's syndrome.;Journal of Medical Genetics;1991-06-01

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

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