40 kilobase deletion (CF 40 kb del 4-10) removes exons 4 to 10 of the cystic fibrosis transmembrane conductance regulator gene
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference21 articles.
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3. A comprehensive genetic map of the human genome based on 5264 microsatellites;Dib;Nature,1996
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5. A candidate gene for the cystic fibrosis locus isolated by selection for methylation free islands;Estivill;Nature,1987
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1. Analysis of rearrangements of the CFTR gene in patients from Turkey with CFTR-related disorders: frequent exon 2 deletion;Journal of Human Genetics;2020-10-22
2. Rare large homozygousCFTRgene deletion in an Iranian patient with cystic fibrosis;World Journal of Clinical Cases;2014
3. Apparent Homozygosity of a Novel Frame Shift Mutation in the CFTR Gene Because of a Large Deletion;The Journal of Molecular Diagnostics;2009-05
4. Cystic Fibrosis Testing Comes of Age;The Journal of Molecular Diagnostics;2009-05
5. Characterization of a Recurrent Novel Large Duplication in the Cystic Fibrosis Transmembrane Conductance Regulator Gene;The Journal of Molecular Diagnostics;2007-09
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