Relation between genotype and phenotype in Swedish phenylketonuria and hyperphenylalaninemia patients-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Relation between genotype and phenotype in Swedish phenylketonuria and hyperphenylalaninemia patients

Published:1993-02 Issue:2 Volume:152 Page:132-139
ISSN:0340-6199
Container-title:European Journal of Pediatrics
language:en
Short-container-title:Eur J Pediatr

Author:

Svensson E.,von Döbeln U.,Eisensmith R. C.,Hagenfeldt L.,Woo S. L. C.

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology and Child Health

Link

http://link.springer.com/content/pdf/10.1007/BF02072490.pdf

Reference28 articles.

1. Berthelon M, Caillaud C, Rey F, Labrune P, Melle D, Feingold J, Frézal J, Briard M-L, Farriaux J-P, Guibaud P, Journel H, Le Marec B, Maurin N, Nivelon J-L, Plauchu H, Saudubray J-M, Tron P, Rey J, Munnich A, Lyonnet S (1991) Spectrum of phenylketonuria mutations in Western Europe and North Africa, and their relation to polymorphic DNA haplotypes at the phenylalanine locus. Hum Genet 86:355–358

2. Caillaud C, Lyonnet S, Rey F, Melle D, Frebourg T, Berthelon M, Vilarinho L, Osorio RV, Rey J, Munnich A (1991) A 3-base pair in-frame deletion of the phenylalanine hydroxylase gene results in a variant of phenylketonuria. J Biol Chem 266: 9351–9354

3. Chakraborty R, Lidsky AS, Daiger SP, Güttler F, Sullivan S, DiLella AG, Woo SLC (1987) Polymorphic DNA haplotypes at the human phenylalanine hydroxylase locus and their relationship with phenylketonuria. Hum Genet 76:40–46

4. Dasovich M, Eisensmith RC, Okano Y, Wang T, Woo SLC (1990) Multiple founding origins of PKU in Europe [abstract]. Am J Hum Genet 47 [Suppl]:A131

5. Dasovich M, Konecki D, Lichter-Konecki U, Eisensmith RC, Güttler F, Naughton E, Mullins C, Giovanni M, Ria E, Woo SLC (1991) Molecular characterization of PKU allele prevalent in Southern Europe and Ireland. Somat Cell Mol Genet 17:303–309

Cited by 54 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. Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria;Genetics in Medicine;2019-03

2. Relationship between genotype, phenylalanine hydroxylase expression and in vitro activity and metabolic phenotype in phenylketonuria;Molecular Genetics and Metabolism;2018-09

3. Autism in Phenylketonuria Patients;Journal of Child Neurology;2016-01-12

4. The Spectrum of PAH Mutations and Increase of Milder Forms of Phenylketonuria in Sweden During 1965–2014;JIMD Reports;2016

5. Phenylketonuria Scientific Review Conference: State of the science and future research needs;Molecular Genetics and Metabolism;2014-06

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