在人苯丙氨酸羟化酶（PAH）基因座处通过聚合酶链反应（PCR）检测PvuII（Ea）限制性片段长度多态性（RFLP） - Suppr

Suppr

超能文献

PCR detection of the PvuII (Ea) RFLP at the human phenylalanine hydroxylase (PAH) locus.

作者信息

Dworniczak B, Wedemeyer N, Eigel A, Horst J

机构信息

Institut für Humangenetik, Universität, Vesaliusweg, Münster, FRG.

出版信息

Nucleic Acids Res. 1991 Apr 25;19(8):1958.

PMID:1674373

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC328143/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3ac3/328143/2a3b31699b88/nar00088-0215-a.jpg

相似文献

PCR detection of the PvuII (Ea) RFLP at the human phenylalanine hydroxylase (PAH) locus.

Nucleic Acids Res. 1991 Apr 25;19(8):1958.

PCR detection of the Bg1II RFLP at the human phenylalanine hydroxylase (PAH) locus.

Nucleic Acids Res. 1991 Apr 25;19(8):1958.

PCR detection of the MspI (Aa) RFLP at the human phenylalanine hydroxylase (PAH) locus.

Nucleic Acids Res. 1991 Apr 25;19(8):1959. doi: 10.1093/nar/19.8.1959.

Detection of the XmnI RFLP at the human PAH locus by PCR.

Nucleic Acids Res. 1992 Feb 25;20(4):927. doi: 10.1093/nar/20.4.927-a.

A high-frequency TaqI polymorphism at the ovine phenylalanine hydroxylase (PAH)locus.

Anim Genet. 1996 Apr;27(2):124.

RFLPs at the PAH (phenylalanine hydroxylase) gene in the Japanese population.

Nucleic Acids Res. 1991 Apr 25;19(8):1960. doi: 10.1093/nar/19.8.1960.

AccII polymorphism of the p53 gene.

Nucleic Acids Res. 1990 Aug 25;18(16):4963.

Molecular analysis of the phenylalanine hydroxylase gene in Mexican phenylketonuric patients.

Arch Med Res. 1995 Spring;26(1):53-7.

Detection and investigation of Campylobacter jejuni by polymerase chain reaction-restriction fragment length polymorphism analysis.

Microbios. 2000;102(403):159-64.

Polymerase chain reaction (PCR) for detection of MspI polymorphism at the D3S2 locus.

Nucleic Acids Res. 1991 Jul 11;19(13):3761.

引用本文的文献

Genetic Diversity and Balancing Selection within the Human Phenylalanine Hydroxylase (PAH) Gene Region in Iranian Population.

Iran J Public Health. 2012;41(5):97-104. Epub 2012 May 31.

Phylogenetic relationship analysis of Iranians and other world populations using allele frequencies at 12 polymorphic markers.

Mol Biol Rep. 2012 Dec;39(12):11187-99. doi: 10.1007/s11033-012-2028-7. Epub 2012 Oct 14.

Haplotypes and linkage disequilibrium at the phenylalanine hydroxylase locus, PAH, in a global representation of populations.

Am J Hum Genet. 2000 Jun;66(6):1882-99. doi: 10.1086/302952. Epub 2000 Apr 27.

Population genetics of hyperphenylalaninaemia resulting from phenylalanine hydroxylase deficiency in Portugal.

J Med Genet. 1998 Apr;35(4):301-4. doi: 10.1136/jmg.35.4.301.

Mutation and haplotype analysis of phenylalanine hydroxylase alleles in classical PKU patients from the Czech Republic: identification of four novel mutations.

J Med Genet. 1997 Nov;34(11):893-8. doi: 10.1136/jmg.34.11.893.

Phenylketonuria in Spain: RFLP haplotypes and linked mutations.

Hum Genet. 1993 Oct 1;92(3):254-8. doi: 10.1007/BF00244468.

PKU in Slovakia: mutation screening and haplotype analysis.

Hum Genet. 1995 Jan;95(1):112-4. doi: 10.1007/BF00225087.

Characterization of phenylalanine hydroxylase alleles in untreated phenylketonuria patients from Victoria, Australia: origin of alleles and haplotypes.

Am J Hum Genet. 1995 May;56(5):1034-41.

Phenylketonuria mutations and their relation to RFLP haplotypes at the PAH locus in Czech PKU families.

Hum Genet. 1995 Oct;96(4):472-6. doi: 10.1007/BF00191809.

Updated listing of haplotypes at the human phenylalanine hydroxylase (PAH) locus.

Am J Hum Genet. 1992 Dec;51(6):1445-8.

本文引用的文献

Extensive restriction site polymorphism at the human phenylalanine hydroxylase locus and application in prenatal diagnosis of phenylketonuria.

Am J Hum Genet. 1985 Jul;37(4):619-34.

Regional mapping of the phenylalanine hydroxylase gene and the phenylketonuria locus in the human genome.

Proc Natl Acad Sci U S A. 1985 Sep;82(18):6221-5. doi: 10.1073/pnas.82.18.6221.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验