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Local amino acid sequence patterns dominate the heterogeneous phenotype for the collagen connective tissue disease Osteogenesis Imperfecta resulting from Gly mutations 期刊论文
JOURNAL OF STRUCTURAL BIOLOGY, 2015, 卷号: 192, 期号: 1, 页码: 127-137
作者:  Xiao, JX;  Yang, ZF;  Sun, XX;  Addabbo, R;  Baum, J
收藏  |  浏览/下载:2/0  |  提交时间:2017/01/11
A novel frameshift deletion in the COL1A1 gene identified in a Chinese family with osteogenesis imperfecta 期刊论文
2015, 卷号: 14, 期号: 4, 页码: 15295
作者:  Fan, N.[1];  Jonas, J. B.[2];  He, F.[3];  Yan, N. H.[3];  Wang, Y.[1]
收藏  |  浏览/下载:3/0  |  提交时间:2019/12/10
T in COL1A1 may cause mild osteogenesis imperfecta/Ehlers-Danlos syndrome in a Chinese family">Heterozygous mutation of c.3521C>T in COL1A1 may cause mild osteogenesis imperfecta/Ehlers-Danlos syndrome in a Chinese family 期刊论文
Intractable and Rare Diseases Research, 2015, 卷号: 4, 期号: 1, 页码: 49-53
作者:  Shi X.;  Lu Y.;  Wang Y.;  Zhang Y.-A.;  Teng Y.
收藏  |  浏览/下载:9/0  |  提交时间:2019/12/17
T in COL1A1 may cause mild osteogenesis imperfecta/Ehlers-Danlos syndrome in a Chinese family."> Heterozygous mutation of c.3521C>T in COL1A1 may cause mild osteogenesis imperfecta/Ehlers-Danlos syndrome in a Chinese family. 期刊论文
Intractable & rare diseases research, 2015, 卷号: 4, 期号: 1
作者:  Shi, Xianlong;  Lu, Yanqin;  Wang, Yanzhou;  Zhang, Yu-Ang;  Teng, Yuanwei
收藏  |  浏览/下载:3/0  |  提交时间:2019/12/17


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