Article
[Prenatal gene diagnosis of 200 fetuses at high risk of osteogenesis imperfect].
Zhonghua yi xue za zhi - 12 Nov 2019
Zhao X L, Gao J S, Li L L, Li S, Wang H, Xiao J F, Zhang J, Mi H, Yang Y J, Zhao F Y, Guan X, Cao Y X, Wu Y Y, Lu C X, Yang T, Zhang X
Abstract excerpt
Objective: The authors aim to provide genetic counselling and prenatal gene diagnosis to the families with osteogenesis imperfecta(OI), based on the identification of pathogenetic mutations in large cohort genetic testing. Methods: DNA was extracted from the peripheral blood of parents of the fetuses, and from the villi tissue, amniotic fluid or cord blood of the fetuses using a standard sodium dodecyl...
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