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De novo and inherited pathogenic variants in collagen-related osteogenesis imperfecta

Zhytnik, Lidiia; Maasalu, Katre; Duy, Binh Ho; Pashenko, Andrey; Khmyzov, Sergey; Reimann, Ene; Prans, Ele; Kõks, Sulev; Märtson, Aare (2019). De novo and inherited pathogenic variants in collagen-related osteogenesis imperfecta. Molecular Genetics & Genomic Medicine, 7 (3), ARTN e559. DOI: 10.1002/mgg3.559.
artikkel ajakirjas
Zhytnik, Lidiia; Maasalu, Katre; Duy, Binh Ho; Pashenko, Andrey; Khmyzov, Sergey; Reimann, Ene; Prans, Ele; Kõks, Sulev; Märtson, Aare
  • Inglise
Molecular Genetics & Genomic Medicine
Hoboken
2324-9269
7
3
2019
ARTN e559
11
Ilmunud
1.1. Teadusartiklid, mis on kajastatud Web of Science andmebaasides Science Citation Index Expanded, Social Sciences Citation Index, Arts & Humanities Citation Index, Emerging Sources Citation Index ja/või andmebaasis Scopus (v.a. kogumikud)
Jah
kuldne
Autorile viitamine (CC BY)
WOS

Viited terviktekstile

dx.doi.org/10.1002/mgg3.559

Seotud asutused

Univ Tartu, Dept Traumatol & Orthoped, Tartu, Estonia; Tartu Univ Hosp, Clin Traumatol & Orthoped, Tartu, Estonia; Hue Univ, Hue Univ Med & Pharm, Hue, Vietnam; AMS Ukraine, Dept Pediat Orthoped, Sytenko Inst Spine & Joint Pathol, Kharkov, Ukraine; Univ Tartu, Ctr Translat Med, Tartu, Estonia; Univ Tartu, Dept Pathophysiol, Tartu, Estonia; Murdoch Univ, Ctr Comparat Genom, Perth, WA, Australia; Univ Western Australia, Perron Inst Neurol & Translat Sci, Perth, WA, Australia

Lisainfo

Article
bone fragility; collagen; de novo; osteogenesis imperfecta; Sanger sequencing
https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/mgg3.559