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Article

The utility of single-strand conformation polymorphism (SSCP) analysis: results obtained in families with Fabry's disease.

Scandinavian journal of clinical and laboratory investigation - 1 Apr 1996

Madsen K M, Hasholt L, Sørensen S A, van Loo A, Vanholder R

Abstract excerpt

Single-strand conformation polymorphism (SSCP) analysis is a widely used and relatively simple method for detection of sequence polymorphisms in DNA fragments. We have used this technique to screen the alpha-galactosidase gene, with the aim of identifying the disease causing mutations in families with Fabry's disease. Five single-base shift mutations were found, but a single base-pair deletion could not be...

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Identifiers

PMID: 8743111
DOI: 10.3109/00365519609088605

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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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