苯丙酮尿症患者基因分型的突变筛查与基因扫描 - Suppr

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超能文献

Mutation screening versus gene scanning for genotyping phenylketonuria patients.

作者信息

Guldberg P, Güttler F

机构信息

Danish Center for Human Genome Research, John F. Kennedy Institute, Glostrup.

出版信息

J Inherit Metab Dis. 1994;17(3):359-61. doi: 10.1007/BF00711830.

DOI:10.1007/BF00711830

PMID:7807953

Abstract

摘要

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本文引用的文献

Molecular analysis of phenylketonuria in Denmark: 99% of the mutations detected by denaturing gradient gel electrophoresis.丹麦苯丙酮尿症的分子分析：变性梯度凝胶电泳检测到的突变占99%。

Genomics. 1993 Jul;17(1):141-6. doi: 10.1006/geno.1993.1295.

Hum Mol Genet. 1993 Oct;2(10):1703-7. doi: 10.1093/hmg/2.10.1703.

Hyperphenylalaninemia: diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood.高苯丙氨酸血症：儿童期各种类型苯丙氨酸羟化酶缺乏症的诊断与分类

Acta Paediatr Scand Suppl. 1980;280:1-80.

Detection and localization of single base changes by denaturing gradient gel electrophoresis.通过变性梯度凝胶电泳检测和定位单碱基变化

Methods Enzymol. 1987;155:501-27. doi: 10.1016/0076-6879(87)55033-9.

Molecular basis of phenylketonuria and related hyperphenylalaninemias: mutations and polymorphisms in the human phenylalanine hydroxylase gene.苯丙酮尿症及相关高苯丙氨酸血症的分子基础：人类苯丙氨酸羟化酶基因中的突变与多态性

Hum Mutat. 1992;1(1):13-23. doi: 10.1002/humu.1380010104.

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