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

doi:10.3109/00365519609088605

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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...

Topics

Fabry Disease
Humans
Mutation
Polymerase Chain Reaction
Polymorphism, Single-Stranded Conformational
alpha-Galactosidase

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