Alternative splicing caused by a large deletion in COL1A1 gene is responsible for a severe case of osteogenesis imperfecta type III.

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作者
Forlino, A [1 ]
Wang, Q [1 ]
Marini, JC [1 ]
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[1] NICHHD,HERITABLE DISORDER BRANCH,NIH,BETHESDA,MD 20892
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R72 [儿科学];
学科分类号
100202 ;
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页码:853 / 853
页数:1
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