资源 » 参考数据库 » 客户发表文献

至今，GenScript的服务及产品已被Cell, Nature, Science, PNAS等1300多家生物医药类杂志引用近万次，处于行业领先水平。NIH、哈佛、耶鲁、斯坦福、普林斯顿、杜克大学等约400家全球著名机构使用GenScript的基因合成、多肽服务、抗体服务和蛋白服务等成功地发表科研成果，再次证明GenScript 有能力帮助业内科学家Make research easy.

SCN1A gain of function in early infantile encephalopathy.

Ann. Neurol.. 2019;

BereckiGéza，BrysonAlexander，TerhagJan，MaljevicSnezana，GazinaElena V，HillSean L，PetrouSt

Products/Services Used	Details	Operation
Gene Synthesis	… sequence. DNA synthesis (GenScript, Piscataway, NJ) was used to replace large segments of … Seq. NP_001159435.1) encoded by either the original or the modified cDNA sequence (Appendix 2). The V1353L and T226M mutations were introduced using the QuikChange …	Get A Quote

摘要

To elucidate the biophysical basis underlying the distinct and severe clinical presentation in patients with the recurrent missense SCN1A variant， p.Thr226Met. Patients with this variant show a well-defined genotype-phenotype correlation and present with developmental and early infantile epileptic encephalopathy that is far more severe than typical SCN1A Dravet syndrome.