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. 2019 Jun 21;20(12):3036. doi: 10.3390/ijms20123036

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© 2019 by the authors.

Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).

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U1-mediated rescue in coagulation FVII deficiency. Coagulation FVII deficiency caused by c.859+5G>A (A) and c.681+1G>T (B) nucleotide changes in the F7 gene. Schematic representation of the genomic context (left panel), splicing transcripts (middle panel) and protein isoforms (right panel) is reported. Sequences of the splice sites and position of mutations are indicated. Frameshift of the coding sequence and premature stop codons are reported by asterisks and red X letter, respectively. Percentages of transcripts, antigen and relative coagulation activity are reported. Values in rounded brackets indicate experiments in mouse model of the disease.