MOLECULAR BASIS OF OSTEOGENESIS IMPERFECTA TYPE II

II 型成骨不全症的分子基础

• 批准号: 3456734
• 负责人: Jeff Bonadio
• 金额: $ 6.58万
• 依托单位: UNIVERSITY OF MICHIGAN AT ANN ARBOR
• 依托单位国家: 美国
• 财政年份: 1987
• 资助国家: 美国
• 起止时间: 1987-04-01 至 1991-07-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/3456734
• 关键词: DNA; chromosome deletion; collagen; connective tissue; electrophoresis; fibroblasts; gene expression; genetic mapping; human tissue; messenger RNA; molecular cloning; molecular pathology; nucleic acid sequence; osteogenesis imperfecta; protein biosynthesis; radiotracer; tissue /cell culture; transposon /insertion element

项目成果

The clinicopathological features of three babies with osteogenesis imperfecta resulting from the substitution of glycine by valine in the pro alpha 1 (I) chain of type I procollagen.

三名因 I 型前胶原蛋白原 α1 (I) 链中甘氨酸被缬氨酸取代而导致成骨不全的婴儿的临床病理特征。

• DOI: 10.1136/jmg.29.2.112
• 发表时间: 1992
• 期刊: Journal of medical genetics
• 影响因子: 4
• 作者: Cole,WG;Patterson,E;Bonadio,J;Campbell,PE;Fortune,DW
• 通讯作者: Fortune,DW

Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen.

• 发表时间: 1988-02
• 期刊: American journal of human genetics
• 影响因子: 9.8
• 作者: P. Byers;P. Tsipouras;J. Bonadio;B. Starman;R. C. Schwartz

RNA sequence analysis of a perinatal lethal osteogenesis imperfecta mutation.

围产期致死性成骨不全突变的 RNA 序列分析。

• 发表时间: 1989
• 期刊: The Journal of biological chemistry
• 作者: Patterson,E;Smiley,E;Bonadio,J
• 通讯作者: Bonadio,J