(US)examinationand COL1A1/COL1A2 gene mutation detection. It is helpful to establish a clinical protocol for OI patient and provide the technical se-curity for prenatal diagnosis. Methods:The pregnant woman with OI pregnancy history must be monitored by US. According to ultra-sonography of ...
A new type mutant COL2A1 gene, the mutated COL2A1 gene being a single point mutation c.3944G>A(chr12:48368588), and a heterozygous mutation being pathogenic, which is a dominant inheritance pattern. The amino acid change p.Cys1315Tyr and the site mutation results in the structure of the...
关键词 COL1A2基因; 成骨不全症; 突变; 表型基因型相关性分析 A denovo COL1A2genemutation ina fetus with 下载文档 收藏 分享赏 0 内容提供方:2105194781 审核时间:2018-10-01 审核编号:7140113045001104 版权证书: 区块链号:
Objective:In this study,the patients with OI pregnancy history were required to have ultrasound(US) examination and COL1A1/COL1A2 gene mutation detection.It is helpful to establish a clinical protocol for OI patient and provide the technical security for prenatal diagnosis.Methods:The pregnant woman...
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Keywords: osteogenesis imperfecta type Ⅰ; C0L1A2 gene; novel mutation; pathogenic identification 成骨不全(Osteogenesis imperfecta, OI)又称为脆 表1 成骨不全分型列表 骨病,是一种全身结缔组织遗传病,常见的、经典 分型 OMIM 临床严重性 突变基因 遗传方式 的 OI 呈常染色体显性遗传(Autosomal dominant, ...
成骨不全Ⅰ型胶原基因突变OsteogenesisimperfectatypeⅠcollagengenemutation成骨不全(Osteogenesis imperfecta,OI)又称脆骨病(brittle bonedisease),是一种以骨脆弱、... 王熙然 - 中国人民解放军军医进修学院 被引量: 3发表: 2008年 成骨不全症患者COL1A1/2致病突变谱和基因诊断研究 目的 在成骨不全症(OI)患者...
the proband and his daughter have carried a novel c.299-1G>C splicing mutation of the COL1A1 gene.The same mutation was not found in the fetus of this family.For family 4,the proband has carried a novel c.1990G>C (p.Gly664Arg) mutation of the COL1A2 gene.The four mutati...
颅内动脉瘤患者COL1A2基因rs42524位点多态性检测与分析
Vasan NS, Kuivaniemi H, Vogel BE, Minor RR, Wootton JAM, Tromp G, Weksberg R, Prockop DJ (1991) A mutation in the proα2(I) gene (COL1A2) for type I procollagen in Ehlers-Danlos syndrome type VII: evidence suggesting that skipping of exon 6 in RNA splicing may be a common ...