作者: V. M. Park , Kathleen A. Kenwright , Dawn B. Sturtevant , Enikö Kármá Pivnick
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摘要: Alternative splicing of exons 29 and 30 the human neurofibromatosis type 1 (NF1) gene was detected by reverse transcription/polymerase chain reaction (RT-PCR). Three different isoforms that omitted either one or both were identified (ex29-, ex30-, ex29/30-). The alternatively spliced transcripts exhibited tissue-specific differences, with ex30- variant apparent only in brain. All three altered reading frame introduced a stop codon adjacent downstream exon. this region NF1 also RNA from rats, although observed. mice revealed constitutive expression gene. This study adds new site alternative processing to complex NF1.