Splicing defect in FKBP10 gene causes autosomal recessive osteogenesis imperfecta disease: a case report

• Asıl Yazarlar: Fatemeh Maghami (Yazar), Seyed Mohammad Bagher Tabei (Yazar), Hossein Moravej (Yazar), Hassan Dastsooz (Yazar), Farzaneh Modarresi (Yazar), Mohammad Silawi (Yazar), Mohammad Ali Faghihi (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: BMC, 2018-05-01T00:00:00Z.
• Konular: article
• Online Erişim: Connect to this object online.

Abstract Background Osteogenesis imperfecta (OI) is a group of connective tissue disorder caused by mutations of genes involved in the production of collagen and its supporting proteins. Although the majority of reported OI variants are in COL1A1 and COL1A2 genes, recent reports have shown problems...