A novel deleterious mutation in the COMP gene that causes pseudoachondroplasia.
COMP基因中一种新的有害突变会导致假性软骨发育不全
期刊:Human Genome Variation
影响因子:1.3
doi:10.1038/hgv.2016.9
Luo Huaichao, Yu Sisi, Lin Ying, Guo Qi, Ma Rongchuan, Ye Zimeng, Di Yanan, Li Ning, Miao Yuanying, Zhou Yu, Li Yuanfeng, Yang Jiyun, Yang Zhenglin