Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression
对来自 19,263 例临床微阵列病例的 NRXN1 缺失进行分子特征分析,鉴定出对神经发育疾病表达至关重要的外显子。
期刊:Genetics in Medicine
影响因子:6.2
doi:10.1038/gim.2016.54
Lowther, Chelsea; Speevak, Marsha; Armour, Christine M; Goh, Elaine S; Graham, Gail E; Li, Chumei; Zeesman, Susan; Nowaczyk, Malgorzata J M; Schultz, Lee-Anne; Morra, Antonella; Nicolson, Rob; Bikangaga, Peter; Samdup, Dawa; Zaazou, Mostafa; Boyd, Kerry; Jung, Jack H; Siu, Victoria; Rajguru, Manjulata; Goobie, Sharan; Tarnopolsky, Mark A; Prasad, Chitra; Dick, Paul T; Hussain, Asmaa S; Walinga, Margreet; Reijenga, Renske G; Gazzellone, Matthew; Lionel, Anath C; Marshall, Christian R; Scherer, Stephen W; Stavropoulos, Dimitri J; McCready, Elizabeth; Bassett, Anne S