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将软骨发育异常的疾病分类学扩展到细胞和分子水平。

Extending the nosology of the chondrodysplasias to the cellular and molecular levels.

作者信息

Horton W A

机构信息

Department of Pediatrics, Medical School, University of Texas-Houston 77225.

出版信息

Pediatr Radiol. 1994;24(6):410-2. doi: 10.1007/BF02011906.

Abstract

Rapid advances in molecular genetics have created and will continue to create problems in the classification of human bone dysplasias. It is proposed that the functional significance of mutations be taken into account in future nosologies for these disorders. Chondrocyte culture and transgenic mouse strategies are briefly discussed as approaches to evaluating the functional consequences of chondrodysplasia mutations on skeletel development and growth.

摘要

分子遗传学的快速发展已经并将继续在人类骨发育异常的分类方面产生问题。有人提议,在这些疾病未来的疾病分类学中应考虑突变的功能意义。作为评估软骨发育异常突变对骨骼发育和生长的功能后果的方法,简要讨论了软骨细胞培养和转基因小鼠策略。

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