Whole-exome sequencing identifies de novo mutation in the COL1A1 gene to underlie the severe osteogenesis imperfecta

BACKGROUND: Osteogenesis imperfecta (OI) comprises a clinically and genetically heterogeneous group of connective tissue disorders, characterized by low bone mass, increased bone fragility, and blue-gray eye sclera. OI often results from missense mutations in one of the conserved glycine residues pr...

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Detalles Bibliográficos
Autores principales: Maasalu, Katre, Nikopensius, Tiit, Kõks, Sulev, Nõukas, Margit, Kals, Mart, Prans, Ele, Zhytnik, Lidiia, Metspalu, Andres, Märtson, Aare
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Primary Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4429824/
https://www.ncbi.nlm.nih.gov/pubmed/25958000
http://dx.doi.org/10.1186/s40246-015-0028-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4429824/
https://www.ncbi.nlm.nih.gov/pubmed/25958000
http://dx.doi.org/10.1186/s40246-015-0028-0

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