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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Vydáno v:J Mol Diagn
Hlavní autoři: Kerschner, Jenny L., Ghosh, Sujana, Paranjapye, Alekh, Cosme, Wilmel R., Audrézet, Marie-Pierre, Nakakuki, Miyuki, Ishiguro, Hiroshi, Férec, Claude, Rommens, Johanna, Harris, Ann
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society for Investigative Pathology 2019
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Article
On-line přístup: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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