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成骨不全的分子遗传学和基因治疗研究进展 被引量:1

Advance of genetic studies and gene therapy on osteogenesis imperfecta
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摘要 成骨不全是一类以反复骨折、骨骼畸形为主要临床表现,并伴其他胶原组织改变的临床综合征。传统的Sillence分类法将其分为Ⅰ-Ⅳ型,改良的Sillence分类法将其分为Ⅰ~Ⅶ型,其中Ⅴ、Ⅵ、Ⅶ型均未发现Ⅰ型胶原基因突变。目前的治疗主要集中在最大可能避免骨折和恢复功能,包括外科手术和药物治疗。由于该病属单基因遗传病,基因治疗将是治疗该病的根本途径。
出处 《国际儿科学杂志》 2009年第5期541-544,共4页 International Journal of Pediatrics
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