Article
Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening.
Human mutation - 1 Jun 2002
Bobadilla Joseph L, Macek Milan, Fine Jason P, Farrell Philip M
Abstract excerpt
Although there have been numerous reports from around the world of mutations in the gene of chromosome 7 known as CFTR (cystic fibrosis transmembrane conductance regulator), little attention has been given to integrating these mutant alleles into a global understanding of the population molecular genetics associated with cystic fibrosis (CF). We determined the distribution of CFTR mutations in as many regions...
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