COL1A1/2 Pathogenic Variants and Phenotype Characteristics in Ukrainian Osteogenesis Imperfecta Patients

COL1A1/2 Pathogenic Variants and Phenotype Characteristics in Ukrainian Osteogenesis Imperfecta Patients

Osteogenesis imperfecta (OI) is a hereditary bone disorder caused by defects of type I collagen. Although up to 90% of patients harbor pathogenic variants in the COL1A1/2 gene, which codes for collagen α1/2 chains, the spectrum of OI genotypes may differ between populations, and there is academic co...

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Bibliographic Details
Main Authors: Lidiia Zhytnik, Katre Maasalu, Andrey Pashenko, Sergey Khmyzov, Ene Reimann, Ele Prans, Sulev Kõks, Aare Märtson
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-08-01
Series:Frontiers in Genetics
Subjects:
osteogenesis imperfecta
collagen I
COL1A1
COL1A2
Sanger sequencing
bone disorder
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2019.00722/full

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