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Recent advances in molecular analysis of skeletal dysplasia.

作者信息

Ozono K

机构信息

Department of Environmental Medicine, Osaka Medical Center, Japan.

出版信息

Acta Paediatr Jpn. 1997 Aug;39(4):491-8. doi: 10.1111/j.1442-200x.1997.tb03626.x.

DOI:10.1111/j.1442-200x.1997.tb03626.x
PMID:9316299
Abstract

Recent advances in molecular and cellular biology have contributed significantly to the elucidation of the pathogenesis of many kinds of skeletal dysplasia. The number of skeletal dysplastic diseases that are identified to have associated abnormalities in genes has increased. Some diseases such as achondroplasia, thanatophoric dysplasia and hypochondroplasia are shown to be allelic. In addition to those diseases associated with mutations of the fibroblast growth factor receptor 3 gene, the abnormalities in collagen, Gs alpha, vitamin D receptor and tissue nonspecific alkaline phosphatase genes are briefly reviewed in this article.

摘要

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Recent advances in molecular analysis of skeletal dysplasia.
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2
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[From gene to disease; achondroplasia and other skeletal dysplasias due to an activating mutation in the fibroblast growth factor].[从基因到疾病；成纤维细胞生长因子激活突变导致的软骨发育不全及其他骨骼发育不良]
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The genetic basis of the osteochondrodysplasias.
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