[Mutation spectrum of phenylalanine hydroxylase gene in patients with phenylketonuria in Tianjin and surrounding areas of Northern China].

doi:10.3760/cma.j.issn.1003-9406.2010.01.002

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Article

[Mutation spectrum of phenylalanine hydroxylase gene in patients with phenylketonuria in Tianjin and surrounding areas of Northern China].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Feb 2010

Song Li, Dang Liheng, Meng Yingtao, Fu Bojing

Abstract excerpt

OBJECTIVE: To investigate the characteristics of the phenylalanine hydroxylase (PAH) gene mutations in patients with phenylketonuria (PKU) in Tianjin and surrounding area, in order to provide basic information for genetic counseling and prenatal gene diagnosis. METHODS: All of the 13 exons and flanking introns of the PAH gene from 99 patients with PKU were amplified by polymerase chain reaction and analyzed by...

Topics

Adolescent
Asian People
Base Sequence
Child
Child, Preschool
China
Exons
Female
Humans
Infant
Infant, Newborn

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Introns

Male

Molecular Sequence Data

Mutation

Phenylalanine Hydroxylase

Phenylketonurias

Sequence Analysis, DNA

Source

Open in PubMed

Identifiers

PMID: 20140859
DOI: 10.3760/cma.j.issn.1003-9406.2010.01.002

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