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Article

Haplotype-based Noninvasive Prenatal Diagnosis of Hyperphenylalaninemia through Targeted Sequencing of Maternal Plasma.

Scientific reports - 9 Jan 2018

Ye Jun, Chen Chao, Yuan Yuan, Han Lianshu, Wang Yaoshen, Qiu Wenjuan, Zhang Huiwen, Asan, Gu Xuefan

Abstract excerpt

Here we developed a haplotype-based noninvasive prenatal diagnosis method for hyperphenylalaninemia (HPA) and demonstrated its accuracy and feasibility during early pregnancy. Capture sequencing was performed on genomic DNA from parents and probands using customized hybridization probes targeting highly heterozygous single-nucleotide polymorphisms located within the 1 M region flanking phenylalanine hydroxylase...

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Identifiers

PMID: 29317692
DOI: 10.1038/s41598-017-18358-y
PMCID: PMC5760544

Genes

PAH
PTS

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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