全部文献期刊学位论文会议报纸专利标准年鉴图书|学者科研项目
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作者:Anthony N Vomund , Stephen R Braddock ...
来源:[J].Molecular Genetics and Metabolism(IF 2.834), 2004, Vol.82 (2), pp.144-153Elsevier
摘要:Abstract(#br)An arginine to glutamine substitution in the triple helix of proα2(I)collagen (R618Q) was first reported in a patient with a variant of Marfan syndrome and later identified in conjunction with a second mutation in a patient with osteogenesis imperfecta (OI). The...

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