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Article

Quantification of relative gene dosage by single-base extension and high-performance liquid chromatography: application to the SMN1/SMN2 gene.

Analytical chemistry - 1 Nov 2005

Hung Chia-Cheng, Lee Chien-Nan, Chen Chih-Ping, Jong Yuh-Jyh, Chen Chi-An, Cheng Wen-Fang, Lin Win-Li, Su Yi-Ning

Abstract excerpt

One of the most commonly used techniques for genotyping of single-nucleotide polymorphism (SNP) is detection of single-base extensions (SBEs). We present a new, rapid, simple, and highly reliable method for accurate quantification of SNP variants in a single reaction. Our approach is based on SBE detection coupled with high-performance liquid chromatography (HPLC) quantification. To demonstrate the utility of our...

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Source

Identifiers

PMID: 16255596
DOI: 10.1021/ac0512047

Genes

SMN1
SMN2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Quantification of relative gene dosage by single-base extension and high-performance liquid chromatography: application to the SMN1/SMN2 gene.PMID 16255596Read ↗

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