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Article

Comparison of PCR-RFLP with allele-specific PCR in genetic testing for spinal muscular atrophy.

Genetic testing - 1 Jan 2003

Xu Ruliang, Ogino Shuji, Lip Va, Fang Hong, Wu Bai-Lin

Abstract excerpt

PCR-based methods for the detection of homozygous deletion of exon 7 of the SMN1 gene have been widely used in genetic testing for spinal muscular atrophy (SMA). We compared the most commonly used PCRrestriction fragment length polymorphism (PCR-RFLP) assay with an allele-specific PCR method, evaluating their potential application in direct testing, prenatal prediction, and preimplantation diagnosis, in terms of...

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Source

Identifiers

PMID: 15000803
DOI: 10.1089/109065703322783626

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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