Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta (vol 164, pg 1482, 2014)

Stephen Joshi; Shukla Anju; Dalal Ashwin; Girisha Katta Mohan; Shah Hitesh; Gupta Neerja; Kabra Madhulika; Dabadghao Preeti; Hasegawa Kosei; Tanaka Hiroyuki; Phadke Shubha R.

首页> 外文期刊>American journal of medical genetics, Part A >Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta (vol 164, pg 1482, 2014)

【24h】

Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta (vol 164, pg 1482, 2014)

机译：印度成骨不全患者中COL1A1和COL1A2基因的突变谱（第164卷，第1482页，2014年）

获取原文

获取原文并翻译 | 示例

掌桥外文数据库（机构版） >>

开具论文收录证明 >>

文献代查 >>

页面导航

著录项
相似文献
相关主题

著录项

来源
《American journal of medical genetics, Part A》 |2015年第11期|共1页
作者
Stephen Joshi; Shukla Anju; Dalal Ashwin; Girisha Katta Mohan; Shah Hitesh; Gupta Neerja; Kabra Madhulika; Dabadghao Preeti; Hasegawa Kosei; Tanaka Hiroyuki; Phadke Shubha R.;
展开▼
作者单位

展开▼
收录信息
原文格式 PDF
正文语种 eng
中图分类医学遗传学;
关键词

相似文献

外文文献
中文文献
专利

1. Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta (vol 164, pg 1482, 2014) [J] . Stephen Joshi, Shukla Anju, Dalal Ashwin, American journal of medical genetics, Part A . 2015,第11期

机译：印度成骨不全患者中COL1A1和COL1A2基因的突变谱（第164卷，第1482页，2014年）
2. Mutation spectrum of COL1A1/COL1A2 screening by high-resolution melting analysis of Chinese patients with osteogenesis imperfecta [J] . Journal of bone and mineral metabolism . 2020,第2期

机译：COL1A1 / COL1A2筛选的突变光谱通过高分辨率的骨质发生患者的高分辨率熔化分析
3. Mutation spectrum of COL1A1/COL1A2 screening by high-resolution melting analysis of Chinese patients with osteogenesis imperfecta [J] . Ecological restoration . 2020,第2期

机译：COL1A1 / COL1A2筛选的突变光谱通过高分辨率的骨质发生患者的高分辨率熔化分析
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。

Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta (vol 164, pg 1482, 2014)

著录项

相似文献

相关主题

期刊订阅