Identification and functional analysis of a novel de novo missense mutation located in the initiation codon of LAMP2 associated with early onset female Danon disease
鉴定并分析位于 LAMP2 起始密码子上的一种新的新生错义突变,该突变与早发性女性 Danon 病有关
期刊:Molecular Genetics & Genomic Medicine
影响因子:1.5
doi:10.1002/mgg3.2216
Yongxiang Wang, Ming Bai, Piyi Zhang, Yu Peng, Zixian Chen, Zhiyu He, Jin Xu, Youqi Zhu, Dongdong Yan, Runqing Wang, Zheng Zhang