Lilienthal Anthony J, Parida Mrutyunjaya, Manak J Robert
Dept of Biology, University of Iowa.
Dept of Pediatrics, University of Iowa, Iowa City, IA, USA.
MicroPubl Biol. 2022 Oct 20;2022. doi: 10.17912/micropub.biology.000656. eCollection 2022.
We used paired-end next generation sequencing (NGS) to characterize the classic isoform-specific and mutations of the gene in . Here we provide evidence that these previously reported null mutations are caused by either a transposon insertion into the 5' UTR of or a premature stop codon in the second exon of Additional likely benign missense mutations were identified in both mutant isoforms.
我们使用双末端新一代测序（NGS）来表征经典的异构体特异性以及该基因在……中的突变。在这里，我们提供证据表明，这些先前报道的无效突变是由转座子插入到……的5'非翻译区（UTR）或……第二个外显子中的提前终止密码子引起的。在两种突变异构体中均鉴定出其他可能的良性错义突变。
