Wird geladen...

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...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Hum Genomics
Hauptverfasser: Zhytnik, Lidiia, Maasalu, Katre, Reimann, Ene, Prans, Ele, Kõks, Sulev, Märtson, Aare
Format: Artigo
Sprache:Inglês
Veröffentlicht: BioMed Central 2017
Schlagworte:
Online Zugang: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
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!