The identification of mutations in patients with osteogenesis imperfecta from the Republic of Bashkortostan
Year: 2020
Pages: 460-463
Number: Volume 13, issue 4
DOI: https://doi.org/10.31301/2221-6197.bmcs.2020-38
Topic: Article
Authors: Khusainova R.I.!, Zaripova A.R.
Summary:
A molecular genetic study of osteogenesis imperfecta in 103 burdened families was carried out. 9 types of pathogenic mutations were identified in 12 patients in the COL1A1, COL1A2 and IFITM5 genes: 2 duplications, 1 deletion, 2 nonsense, 3 missense, 1 frame shift.
Keywords:
genetics; hereditary diseases; incomplete (imperfect) osteogenesis; collagen genes; multiple fractures; blue sclera syndrome; sequencing; mutations; polymorphic variants; NGS sequencing.
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