The splice donor site is generally an efficient splice donor site and thereby regulates expression of the product gene using the transcriptional regulatory region.

A polynucleotide encoding a thymidine kinase wherein the thymidine kinase coding region does not contain a functional splice acceptor and/or splice donor site.

The major haplotype mutation is located in the donor splice site of intron 20.

Mutations have been described throughout the coding region and more rarely, within the splice donor site.

acceptor junction site The junction between the 3' end of an intron and the 5' end of an exon.

In addition, the combination of the sequence comprising the splice donor site and the sequence comprising the splice acceptor site contains all the elements necessary for the splicing, advantageously derived from a natural intron of the dysferlin gene.

Indeed, the change of a single nucleotide can change the splice donor site, without changing the amino acid sequence.

The human soluble neuropilin-1 (sNRP) polyadenylation signal (sNRP-poly(A)), situated downstream of the GT splice donor site of intron 12 of the full-length neuropilin-1 gene, also functions as the termination codon for sNRP.

The splice donor site is generally an efficient splice donor site and thereby regulates expression of the product gene using the transcriptional regulatory region.

A polynucleotide encoding a thymidine kinase wherein the thymidine kinase coding region does not contain a functional splice acceptor and/or splice donor site.

The major haplotype mutation is located in the donor splice site of intron 20.

Mutations have been described throughout the coding region and more rarely, within the splice donor site.

The 5' -donor splicing site sequence can be present in multiple copies, for example as a tandem repeat.

acceptor junction site The junction between the 3' end of an intron and the 5' end of an exon.

In addition, the combination of the sequence comprising the splice donor site and the sequence comprising the splice acceptor site contains all the elements necessary for the splicing, advantageously derived from a natural intron of the dysferlin gene.