A novel de novo COL1A1 mutation in a Thai boy with osteogenesis imperfecta born to consanguineous parents
一名泰国男孩患有成骨不全症,其父母近亲结婚,并发现一种新的从头发生的COL1A1基因突变。
期刊:Genetics and Molecular Biology
影响因子:1.3
doi:10.1590/1678-4685-GMB-2016-0033
Tongkobpetch, Siraprapa; Limpaphayom, Noppachart; Sangsin, Apiruk; Porntaveetus, Thantrira; Suphapeetiporn, Kanya; Shotelersuk, Vorasuk