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COL1A2 gene analysis in a Czech osteogenesis imperfecta patient: a candidate novel mutation in a patient affected by osteogenesis imperfecta type 3

机译：COL1A2在捷克骨质发生患者中的基因分析：受骨质发生影响的患者中的候选新突变3型

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Lucie Hrušková; Ivan Mazura; Ivo Marik; Stella Mazurova; Pavel Martasek;
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1. COL1A2 gene analysis in a Czech osteogenesis imperfecta patient: a candidate novel mutation in a patient affected by osteogenesis imperfecta type 3 [J] . Lucie Hru?ková, Ivo Ma?ík, Stella Mazurová, Advances in Genomics and Genetics . 2015,第2期

机译：捷克成骨不全症患者的COL1A2基因分析：受3型成骨不全症影响的患者中的候选新突变
2. Mutational analysis of COL1A1 and COL1A2 genes among Estonian osteogenesis imperfecta patients [J] . Lidiia Zhytnik, Katre Maasalu, Ene Reimann, Human Genomics . 2017,第1期

机译：爱沙尼亚成骨不全患者中COL1A1和COL1A2基因的突变分析
3. Cell therapy of a patient with type III osteogenesis imperfecta caused by mutation in COL1A2 gene and unstable collagen type I [J] . Marcin Majka, Magdalena Janeczko, Jolanta Go?dzik, Open Journal of Genetics . 2013,第1期

机译：因COL1A2基因突变和I型不稳定胶原蛋白引起的III型成骨不全患者的细胞治疗
4. Determination of Fracture Risk on Patient-specific Model of Femur with Osteogenesis Imperfecta [C] . Siti Fatima Zahra Ahmad, Mohd Hanafi Mat Som, Khairul Salleh Basaruddin, International Conference on Biomedical Engineering . 2020

机译：骨质发生患者患者特异性模型的骨折风险的测定
5. Diverse mechanisms of human genetic disease: Splice order determination in the COL1A2 gene. Effects that influence splice site mutations in osteogenesis imperfecta and a translocation disrupting SNRPN gene causes Prader-Willi syndrome. [D] . Kuslich, Christine D. 1999

机译：人类遗传疾病的多种机制：COL1A2基因的剪接顺序确定。影响成骨不全症中剪接位点突变和易位破坏SNRPN基因的效应会导致Prader-Willi综合征。
6. Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-allele mutations. [O] . J Körkkö, L Ala-Kokko, A De Paepe, 1998

机译：通过PCR扩增和构象敏感的凝胶电泳扫描对COL1A1和COL1A2基因进行分析在15例I型成骨不全患者中仅发现COL1A1突变：鉴定无效等位基因突变的常见序列。
7. Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-allele mutations. [O] . Körkkö, J, Ala-Kokko, L, De Paepe, A, 1998

机译：通过PCR扩增对COL1A1和COL1A2基因进行分析，并通过构象敏感的凝胶电泳进行扫描，在15例I型成骨不全患者中仅发现COL1A1突变：鉴定无效等位基因突变的常见序列。

COL1A2 gene analysis in a Czech osteogenesis imperfecta patient: a candidate novel mutation in a patient affected by osteogenesis imperfecta type 3

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