Two new mutations detected by single-strand conformation polymorphism analysis in cystic fibrosis from Russia.

doi:10.1007/BF00230224

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Article

Two new mutations detected by single-strand conformation polymorphism analysis in cystic fibrosis from Russia.

Human genetics - 1 Mar 1993

Ivaschenko T E, Baranov V S, Dean M

Abstract excerpt

Single-strand conformation polymorphism (SSCP) analysis followed by direct sequencing of exons containing ATP-binding domains of the cystic fibrosis transmembrane conductance regulator (CFTR) gene was performed on 80 Russian DNA samples. Two new alterations--S1196X (exon 19) and W1282R (exon 20)-...

Topics

Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
DNA, Single-Stranded
Exons
Humans
Membrane Proteins
Mutation
Polymerase Chain Reaction
Polymorphism, Genetic
Russia

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