遗传性耳聋分子诊断及梯级检测策略应用
曾焙枰， 许红恩， 毛璐， 汤文学 - 遗传, 2022 - chinagene.cn
… In this review, we evaluate and discuss the utility of molecular diagnosis and the application
of stepwise testing strategies in hereditary deafness to provide reference for the selection of …
of stepwise testing strategies in hereditary deafness to provide reference for the selection of …
[PDF][PDF] 猪SLC26A7基因内含子1中内源性逆转录病毒(ERV)转座子插入多态与生长性状的关联分析
陈子璇， 迟诚林， 安亚龙， 陈才， 宋成义… - 农业生物技术 …, 2020 - journal05.magtech.org.cn
… in different breeds and their effects on the growth characteristics of Yorkshire were detected.
The … 基因的突变导致先天性失氯性腹泻, SLC26A4基因的突变导致Pendred综合征和遗传性 …
The … 基因的突变导致先天性失氯性腹泻, SLC26A4基因的突变导致Pendred综合征和遗传性 …
高通量测序技术在遗传性耳聋研究中的应用及研究进展
王翠翠， 袁慧军 - 遗传, 2017 - chinagene.cn
… Utilizing ethnic-specific differences in minor allele frequency to recategorize reported
pathogenic deafness variants. Am J Hum Genet, 2014, 95(4): 445–453. [DOI] [36] Adzhubei IA, …
pathogenic deafness variants. Am J Hum Genet, 2014, 95(4): 445–453. [DOI] [36] Adzhubei IA, …