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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Detalhes bibliográficos
Publicado no:J Mol Diagn
Main Authors: Kerschner, Jenny L., Ghosh, Sujana, Paranjapye, Alekh, Cosme, Wilmel R., Audrézet, Marie-Pierre, Nakakuki, Miyuki, Ishiguro, Hiroshi, Férec, Claude, Rommens, Johanna, Harris, Ann
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Investigative Pathology 2019
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Article
Acesso em linha: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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