Mutational analysis of COL1A1 and COL1A2 genes among Estonian osteogenesis imperfecta patients

BACKGROUND: Osteogenesis imperfecta (OI) is a rare bone disorder. In 90% of cases, OI is caused by mutations in the COL1A1/2 genes, which code procollagen α1 and α2 chains. The main aim of the current research was to identify the mutational spectrum of COL1A1/2 genes in Estonian patients. The small...

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Bibliografiske detaljer
Udgivet i:Hum Genomics
Main Authors: Zhytnik, Lidiia, Maasalu, Katre, Reimann, Ene, Prans, Ele, Kõks, Sulev, Märtson, Aare
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2017
Fag:
Primary Research
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5558703/
https://ncbi.nlm.nih.gov/pubmed/28810924
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40246-017-0115-5
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