Next-Generation Sequencing Reveals One Novel Missense Mutation in COL1A2 Gene in an Iranian Family with Osteogenesis imperfecta

BACKGROUND: Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous disorder characterized by bone loss and bone fragility. The aim of this study was to investigate the variants of three genes involved in the pathogenesis of OI. METHODS: Molecular genetic analyses were performed f...

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Detalles Bibliográficos
Autores principales: Talebi, Farah, Mardasi, Farideh Ghanbari, Asl, Javad Mohammadi, Bavarsad, Amir Hooshang, Kambo, Masoumeh Salehi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pasteur Institute 2017
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5548966/
https://www.ncbi.nlm.nih.gov/pubmed/28431466
http://dx.doi.org/10.18869/acadpub.ibj.21.5.338

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