Lataa...

Mutational analysis of COL1A1 and COL1A2 genes among Estonian osteogenesis imperfecta patients

BACKGROUND: Osteogenesis imperfecta (OI) is a rare bone disorder. In 90% of cases, OI is caused by mutations in the COL1A1/2 genes, which code procollagen α1 and α2 chains. The main aim of the current research was to identify the mutational spectrum of COL1A1/2 genes in Estonian patients. The small...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Hum Genomics
Päätekijät: Zhytnik, Lidiia, Maasalu, Katre, Reimann, Ene, Prans, Ele, Kõks, Sulev, Märtson, Aare
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BioMed Central 2017
Aiheet:
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC5558703/
https://ncbi.nlm.nih.gov/pubmed/28810924
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40246-017-0115-5
Tagit: Lisää tagi
Ei tageja, Lisää ensimmäinen tagi!