IFITM5 pathogenic variant causes osteogenesis imperfecta V with various phenotype severity in Ukrainian and Vietnamese patients

BACKGROUND: Osteogenesis imperfecta (OI) covers a spectrum of bone fragility disorders. OI is classified into five types; however, the genetic causes of OI might hide in pathogenic variants of 20 different genes. Often clinical OI types mimic each other. This sometimes makes it impossible to identif...

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發表在:Hum Genomics
Main Authors: Zhytnik, Lidiia, Maasalu, Katre, Duy, Binh Ho, Pashenko, Andrey, Khmyzov, Sergey, Reimann, Ene, Prans, Ele, Kõks, Sulev, Märtson, Aare
格式: Artigo
語言:Inglês
出版: BioMed Central 2019
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Primary Research
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC6547447/
https://ncbi.nlm.nih.gov/pubmed/31159867
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40246-019-0209-3
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