Lethal osteogenesis imperfecta and a gene deletion.
作者信息
Sykes B, Ogilvie D
出版信息
Br Med J (Clin Res Ed). 1984 May 5;288(6427):1380-1. doi: 10.1136/bmj.288.6427.1380-b.
Abstract
摘要
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Lethal osteogenesis imperfecta and a gene deletion.致死性成骨不全与基因缺失
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引用本文的文献
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Lethal osteogenesis imperfecta and a collagen gene deletion. Length polymorphism provides an alternative explanation.致死性成骨不全与一个胶原蛋白基因缺失。长度多态性提供了另一种解释。
Hum Genet. 1985;70(1):35-7. doi: 10.1007/BF00389455.
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Evidence against the structural gene encoding type II collagen (COL2A1) as the mutant locus in achondroplasia.反对编码II型胶原蛋白（COL2A1）的结构基因作为软骨发育不全突变位点的证据。
J Med Genet. 1986 Feb;23(1):19-22. doi: 10.1136/jmg.23.1.19.
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Collagen genes and proteins in osteogenesis imperfecta.成骨不全症中的胶原蛋白基因与蛋白质
J Med Genet. 1985 Dec;22(6):466-78. doi: 10.1136/jmg.22.6.466.
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Exclusion of the alpha 1(II) collagen structural gene as the mutant locus in type II Ehlers-Danlos syndrome.排除α1（II）型胶原蛋白结构基因作为II型埃勒斯-当洛综合征的突变位点。
Ann Rheum Dis. 1985 Jul;44(7):431-3. doi: 10.1136/ard.44.7.431.
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Exclusion of the alpha 1(II) cartilage collagen gene as the mutant locus in type IA osteogenesis imperfecta.排除α1（II）型软骨胶原基因作为IA型成骨不全症的突变位点。
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本文引用的文献
1
Medical genetics. Collagen and inherited connective tissue diseases.医学遗传学。胶原蛋白与遗传性结缔组织疾病。
Nature. 1983;305(5937):764. doi: 10.1038/305764a0.
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