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Article

Mutation spectrum of six genes in Chinese phenylketonuria patients obtained through next-generation sequencing.

PloS one - 1 Jan 2014

Gu Ying, Lu Kangmo, Yang Guanghui, Cen Zhong, Yu Li, Lin Lin, Hao Jing, Yang Zhigang, Peng Jiabao, Cui Shujian, Huang Jian

Abstract excerpt

BACKGROUND: The identification of gene variants plays an important role in the diagnosis of genetic diseases. METHODOLOGY/PRINCIPAL FINDINGS: To develop a rapid method for the diagnosis of phenylketonuria (PKU) and tetrahydrobiopterin (BH4) deficiency, we designed a multiplex, PCR-based primer panel to amplify all the exons and flanking regions (50 bp average) of six PKU-associated genes (PAH, PTS, GCH1, QDPR,...

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Source

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Identifiers

PMID: 24705691
DOI: 10.1371/journal.pone.0094100
PMCID: PMC3976377

Genes

PAH
PTS
GCH1
PCBD1
QDPR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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