Article
Analysis of the CFTR gene in the Spanish population: SSCP-screening for 60 known mutations and identification of four new mutations (Q30X, A120T, 1812-1 G-->A, and 3667del4).
Human mutation - 1 Jan 1994
Chillón M, Casals T, Giménez J, Nunes V, Estivill X
Abstract excerpt
In order to determine the spectrum of CF mutations in the Spanish population, we have analysed 40 unrelated Spanish CF patients, with at least one chromosome negative for mutations delta F508, G542X, and N1303K. Exons 1-7,10-14a,15,16,17b,18-21 of the CFTR gene were studied by Single Strand Conformation Polymorphism (SSCP) analysis, using 60 known CF mutations as controls. SSCP screening allowed us to detect 28...
Topics
- Base Sequence
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- DNA Primers
- Exons
- Humans
- Membrane Proteins
- Molecular Sequence Data
- Mutation
- Point Mutation