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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發表在:Hum Genomics
Main Authors: Maasalu, Katre, Nikopensius, Tiit, Kõks, Sulev, Nõukas, Margit, Kals, Mart, Prans, Ele, Zhytnik, Lidiia, Metspalu, Andres, Märtson, Aare
格式: Artigo
語言:Inglês
出版: BioMed Central 2015
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Primary Research
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC4429824/
https://ncbi.nlm.nih.gov/pubmed/25958000
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40246-015-0028-0
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