Analysis of the CFTR gene confirms the high genetic heterogeneity of the Spanish population: 43 mutations account for only 78% of CF chromosomes.

doi:10.1007/BF00201673

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Article

Analysis of the CFTR gene confirms the high genetic heterogeneity of the Spanish population: 43 mutations account for only 78% of CF chromosomes.

Human genetics - 1 Apr 1994

Chillón M, Casals T, Giménez J, Ramos M D, Palacio A, Morral N, Estivill X, Nunes V

Abstract excerpt

We have analysed 972 unrelated Spanish cystic fibrosis patients for 70 known mutations. Analysis was performed on exons 1, 2, 3, 4, 5, 6a, 6b, 7, 10, 11, 12, 13, 14a, 14b, 15, 16, 17b, 18, 19, 20 and 21 of the cystic fibrosis transmembrane regulator gene using single strand conformation polymorph...

Topics

Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
Exons
Humans
Membrane Proteins
Mutation
Spain

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