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Article

[Quantitative pyrosequencing of heterozygous single nucleotide polymorphisms for rapid diagnosis of Down's syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Jun 2009

Liu Xi-qun, Wu Hai-ping, Bu Ying, Zou Bing-jie, Chen Zhi-yao, Zhou Guo-hua

Abstract excerpt

OBJECTIVE: To establish a method to detect Down's syndrome through quantitative pyrosequencing of the heterozygous single nucleotide polymorphisms (SNPs) on the chromosome 21. METHODS: An improved allele-specific-amplification was used to screen heterozygous SNPs on the chromosome 21 from 84 norm...

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Identifiers

PMID: 19504451
DOI: 10.3760/cma.j.issn.1003-9406.2009.03.021

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19504451-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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