Screening for Regulatory Variants in 460 kb Encompassing the CFTR Locus in Cystic Fibrosis Patients

It is estimated that up to 5% of cystic fibrosis transmembrane conductance regulator (CFTR) pathogenic alleles are unidentified. Some of these errors may lie in noncoding regions of the locus and affect gene expression. To identify regulatory element variants in the CFTR locus, SureSelect targeted e...

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Gepubliceerd in:J Mol Diagn
Hoofdauteurs: Kerschner, Jenny L., Ghosh, Sujana, Paranjapye, Alekh, Cosme, Wilmel R., Audrézet, Marie-Pierre, Nakakuki, Miyuki, Ishiguro, Hiroshi, Férec, Claude, Rommens, Johanna, Harris, Ann
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: American Society for Investigative Pathology 2019
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Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6315324/
https://ncbi.nlm.nih.gov/pubmed/30296588
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jmoldx.2018.08.011
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