Phenylketonuria in a low incidence population: molecular characterisation of mutations in Finland.

Author:

Guldberg P,Henriksen K F,Sipila I,Guttler F,de la Chapelle A

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference21 articles.

1. Evidence for origin, by recurrent mutation, of the phenylalanine hydroxylase R408W on two haplotypes in European and Quebec populations;Bycke, S.; Morgan, K.; Tyfield, L.; Dworniczak, B.; Scriver, C.R.;Hum Mol Genet,1994

2. Recurrence of the R408W mutation in the PAH locus in Europeans;Eisensmith, R.C.; Goltsov, A.A.; O'Neill, C.;Am J7 Hum Genet,1995

3. Oligophrenia phenylpyrouvica. Finska Lak Sallsk Handl;Malm, E.,1950

4. Prevalence of phenylketonuria and some other metabolic disorders among mentally retarded patients in Finland;Palo, J.;Acta Neurol Scand,1967

5. The incidence of PKU in Finland;Visakorpi, J.K.; Palo, J.; Renkonen, O.V.;Acta Paediatr Scand,1971

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