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.

UV-sensitive syndrome: Whole exome sequencing identified a nonsense mutation in the gene UVSSA in two consanguineous pedigrees from Pakistan.

J Dermatol Sci. 2019-08;

IjazAmbreen，WolfSabrina，MandukhailSafur Rehman，BasitSulman，BetzRegina C，WaliA

Products/Services Used	Details	Operation
Custom Vector Construction	… Applied Biosystems CA). 2.5. Molecular cloning and mammalian cell cultures. For this purpose, a pcDNA3.1+N-DYK vector containing the sequence for UVSSA transcript variant 1 was used (GenScript, Piscataway, NJ). The mutant …	Get A Quote

摘要

UV-sensitive syndrome (UVS) is a rare autosomal recessive genodermatosis characterised by photosensitivity， and hyperpigmentation， freckling， and dryness of sun exposed areas. In contrast to other photosensitivity disorders， affected patients show no predisposition to cutaneous melanoma or neurological dysfunction. UVS results from a defect in the transcription-coupled nucleotide excision repair (TC-NER) mechanism. UVS can be caused by mutations in the genes ERCC8， ERCC6， and UVSSA.