Haplotype block structure study of the CFTR gene. Most variants are associated with the M470 allele in several European populations.

doi:10.1038/sj.ejhg.5201498

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Haplotype block structure study of the CFTR gene. Most variants are associated with the M470 allele in several European populations.

European journal of human genetics : EJHG - 1 Jan 2006

Pompei Fiorenza, Ciminelli Bianca Maria, Bombieri Cristina, Ciccacci Cinzia, Koudova Monika, Giorgi Silvia, Belpinati Francesca, Begnini Angela, Cerny Milos, Des Georges Marie, Claustres Mireille, Ferec Claude, Macek Milan, Modiano Guido, Pignatti Pier Franco

Abstract excerpt

An average of about 1700 CFTR (cystic fibrosis transmembrane conductance regulator) alleles from normal individuals from different European populations were extensively screened for DNA sequence variation. A total of 80 variants were observed: 61 coding SNSs (results already published), 13 noncoding SNSs, three STRs, two short deletions, and one nucleotide insertion. Eight DNA variants were classified as non-CF...

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PMID: 16251901
DOI: 10.1038/sj.ejhg.5201498

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CFTR

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