Novel compound heterozygous pathogenic variants in ASCC1 in a Chinese patient with spinal muscular atrophy with congenital bone fractures 2 : Evidence supporting a "Definitive" gene‐disease relationship.

Autor: Lu, Weiliang1 (AUTHOR), Liang, Mingxing1 (AUTHOR), Su, Jiasun1 (AUTHOR), Wang, Jin1 (AUTHOR), Li, Lingxiao2 (AUTHOR), Zhang, Shujie1 (AUTHOR), Qin, Zailong1 (AUTHOR), Huang, Limei1 (AUTHOR), Lu, Yingchi1 (AUTHOR), Yi, Shang1 (AUTHOR), Yi, Sheng1 (AUTHOR), Xie, BoBo1 (AUTHOR), Zheng, Haiyang1 (AUTHOR), Luo, Jingsi1 (AUTHOR), Gao, Xiaoyan2 (AUTHOR) 2575691727@qq.com, Shen, Yiping1,3,4,5 (AUTHOR) yiping.shen@childrens.harvard.edu
Zdroj: Molecular Genetics & Genomic Medicine. May2020, Vol. 8 Issue 5, p1-8. 8p.
Databáze: Academic Search Ultimate
Externí odkaz:
Nepřihlášeným uživatelům se plný text nezobrazuje