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BMC Medical Genetics, ISSN 1471-2350, 01/2018, Volume 19, Issue 1, pp. 1 - 4
Background: Osteogenesis imperfecta (OI) is a rare primarily autosomal dominant condition in which the connective tissues of bones, ligaments and sclerae do... 
Retinal detachment | Vitreoretinal | P3H1/LEPRE1 | Osteogenesis Imperfecta | Genetic analysis | GENETICS & HEREDITY | DETACHMENT | Post-translational modification | Gene mutations | Collagen | Osteogenesis imperfecta | Genetic aspects | Hydroxylases | Medicine, Preventive | Preventive health services
Journal Article
Journal Article
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 2009, Volume 53, Issue 1, pp. 1 - 5
Journal Article
Bone Reports, ISSN 2352-1872, 12/2018, Volume 9, pp. 132 - 135
Osteogenesis imperfecta (OI) is a genetic disorder causing skeletal fragility, multiple fractures, and other extraskeletal manifestations. Most cases are... 
Non-collagen I osteogenesis imperfecta | Osteogenesis imperfecta | Recessive osteogenesis imperfecta | LEPRE1
Journal Article
Journal Article
Chinese Journal of Biologicals, ISSN 1004-5503, 01/2013, Volume 26, Issue 1, pp. 96 - 99
Journal Article
摘 要 先天性成骨不全症(Osteogenesis imperfecta;O.I.),是一種因為骨骼結締組織異常所造成的遺傳疾病,其遺傳模式有自體顯性及自體隱性,發生率約為十萬分之6-7,目前臨床依照傳統的分型可以分成四型,在臨床診斷主要依照臨床表徵,然而我們的研究將進行相關基因檢測以及在基因型與表現型相關之探討。... 
COL1A1基因 | 基因檢測 | COL1A1 gene | CRTAP基因 | Denaturing High Performance Liquid Chromatography (DHPLC) | High-Resoution Melting analysis(HRM) | PPIB gene | PPIB基因 | 先天性成骨不全症 | COL1A2基因 | CRTAP gene | LEPRE1基因 | mutation analysis | Osteogenesis imperfecta | COL1A2 gene | LEPRE1 gene
Dissertation
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