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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Detalles Bibliográficos
Autores principales: Zhytnik, Lidiia, Maasalu, Katre, Pashenko, Andrey, Khmyzov, Sergey, Reimann, Ene, Prans, Ele, Kõks, Sulev, Märtson, Aare
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6696896/
https://www.ncbi.nlm.nih.gov/pubmed/31447884
http://dx.doi.org/10.3389/fgene.2019.00722

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6696896/
https://www.ncbi.nlm.nih.gov/pubmed/31447884
http://dx.doi.org/10.3389/fgene.2019.00722

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