凯发一触即发

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.

De novo variants in GABRA2 and GABRA5 alter receptor function and contribute to early-onset epilepsy.

Brain. 2018; 
Butler Kameryn M,Moody Olivia A,Schuler Elisabeth,Coryell Jason,Alexander John J,Jenkins Andrew,Escayg An
Products/Services Used Details Operation
Monoclonal Antibody Services Membranes were stripped and incubated with monoclonal mouse anti-b-actin (1:2000; A00702 GenScript) primary antibody to verify that the biotinylating reagent did Downloaded from //academic. Get A Quote

摘要

GABAA receptors are ligand-gated anion channels that are important regulators of neuronal inhibition. Mutations in several genes encoding receptor subunits have been identified in patients with various types of epilepsy, ranging from mild febrile seizures to severe epileptic encephalopathy. Using whole-genome sequencing, we identified a novel de novo missense variant in GABRA5 (c.880G > C, p.V294L) in a patient with severe early-onset epilepsy and developmental delay. Targeted resequencing of 279 additional epilepsy patients identified 19 rare variants from nine GABAA receptor genes, including a novel de novo missense variant in GABRA2 (c.875C > A, p.T292K) and a recurrent missense variant in GABRB3 (... More

关键词