| 摘要 |
<p>Methods are described for detecting the presence or absence of a four amino acid motif (VRXQ) in expressed proteins that arise from aberrant alternative splicing of pre-mRNA in genes associated with normal neurological function. The presence of these variants suggest that mutational events in these genes have occurred. Nucleotide sequences and nitron-exon junctional sequences of examples of this splicing variant are provided.</p> |
