论文信息 - A de novo in-frame duplication in the COL1A2 gene in a Lagotto Romagnolo dog with osteogenesis imperfecta. - 字舞流文

A de novo in-frame duplication in the COL1A2 gene in a Lagotto Romagnolo dog with osteogenesis imperfecta.

C. Drögemüller | A. Beineke | A. Letko | V. Jagannathan | I. Zdora | V. Hitzler | C. Möhrke

[1] T. Vilaca,et al. Osteogenesis imperfecta: diagnosis and treatment , 2017, Current opinion in endocrinology, diabetes, and obesity.

[2] P. Ng,et al. SIFT Indel: Predictions for the Functional Effects of Amino Acid Insertions/Deletions in Proteins , 2013, PloS one.

[3] A. Parmar,et al. Interruptions in the collagen repeating tripeptide pattern can promote supramolecular association , 2010, Protein science : a publication of the Protein Society.

[4] F. Glorieux,et al. Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans , 2007, Human mutation.

[5] Raymond Dalgleish,et al. The Human Collagen Mutation Database 1998 , 1998, Nucleic Acids Res..