I型胶原α2链三螺旋结构域中的Gly859Ser替代导致两名无血缘关系个体患III型成骨不全症。 - Suppr

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超能文献

A Gly859Ser substitution in the triple helical domain of the alpha 2 chain of type I collagen resulting in osteogenesis imperfecta type III in two unrelated individuals.

作者信息

Rose N J, Mackay K, Byers P H, Dalgleish R

机构信息

Department of Genetics, University of Leicester, UK.

出版信息

Hum Mutat. 1994;3(4):391-4. doi: 10.1002/humu.1380030411.

DOI:10.1002/humu.1380030411

PMID:8081394

Abstract

摘要

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A Gly859Ser substitution in the triple helical domain of the alpha 2 chain of type I collagen resulting in osteogenesis imperfecta type III in two unrelated individuals.I型胶原α2链三螺旋结构域中的Gly859Ser替代导致两名无血缘关系个体患III型成骨不全症。

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