A novel mutation combining with rs66612022 in a Chinese pedigree suggests a new pathogenesis to osteogenesis imperfecta via whole genome sequencing.

Autor: Li, Yanjiao1 (AUTHOR), Liang, Hongsuo2 (AUTHOR), Yuan, Dekai3 (AUTHOR), Liu, Baoling4 (AUTHOR), Liu, Ling5 (AUTHOR), Zhang, Yongfa6 (AUTHOR), Hou, Kaiyu7 (AUTHOR), Zhang, Yunchao8 (AUTHOR), Chen, Bin9 (AUTHOR), Ding, Jing9 (AUTHOR), Li, Yunxia10 (AUTHOR), Wang, Qilin10 (AUTHOR), Wu, Haiying11 (AUTHOR), Shi, Hong12 (AUTHOR) shih@kust.edu.cn, Hu, Min1 (AUTHOR) huminynkm@163.com
Zdroj: Annals of Human Genetics. Jul2020, Vol. 84 Issue 4, p339-344. 6p.
Databáze: Academic Search Ultimate
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