Article
Spectrum of CFTR gene sequence variants in a northern Portugal population.
Pulmonology - 1 Jan 2000
Grangeia A, Alves S, Gonçalves L, Gregório I, Santos A C, Barros H, Barros A, Carvalho F, Moura C
Abstract excerpt
In Portugal, the spectrum of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene variants is not known. The main objective of this work was to determine the type and frequency of CFTR variants in a sample from northern Portugal by the complete analysis of the CFTR coding sequencing performed in 512 Portuguese children. A total of 30 different CFTR sequence variants, already reported as cystic fibrosis...
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