Article

Characterization of a Composite Exonic Regulatory Element of Splicing (CERES) in CFTR Exon 12 : functional properties and evolutionary constraints

2010-01-01

Abstract excerpt

Genotype screening in human disease frequently results in the identification of exon/intron sequence variations whose direct connection with occurrence of disease is often unclear, especially if they occur within exons but do not alter the amino acid coding sequence. However, it is now clear that many of these seemingly harmless changes very often can exert flaws in the splicing process by affecting splicing regul...

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Literature Corpus work: 307fe06e-332e-5bed-b4e8-77646e3bf10a
DOI: 10.21954/ou.ro.0000f1fe

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