Article
Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta.
Human genomics - 12 Aug 2016
Ho Duy Binh, Zhytnik Lidiia, Maasalu Katre, Kändla Ivo, Prans Ele, Reimann Ene, Märtson Aare, Kõks Sulev
Abstract excerpt
BACKGROUND: The genetics of osteogenesis imperfecta (OI) have not been studied in a Vietnamese population before. We performed mutational analysis of the COL1A1 and COL1A2 genes in 91 unrelated OI patients of Vietnamese origin. We then systematically characterized the mutation profiles of these two genes which are most commonly related to OI. METHODS: Genomic DNA was extracted from EDTA-preserved blood according...
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