与I型胶原基因无关的纯合子型成骨不全症
Homozygous osteogenesis imperfecta unlinked to collagen I genes.
作者信息
Aitchison K, Ogilvie D, Honeyman M, Thompson E, Sykes B
机构信息
University of Oxford, Nuffield Department of Pathology, John Radcliffe Hospital, UK.
出版信息
Hum Genet. 1988 Mar;78(3):233-6. doi: 10.1007/BF00291667.
PMID:2894346
Abstract
In a consanguineous pedigree in which a severe type of osteogenesis imperfecta was segregating as an autosomal recessive trait, analysis of genetic markers for both collagen I structural loci COL1A1 and COL1A2 showed that the phenotype was unlinked to either locus.
摘要
在一个近亲家系中，一种严重类型的成骨不全症作为常染色体隐性性状进行分离，对胶原蛋白I结构基因座COL1A1和COL1A2的遗传标记进行分析后发现，该表型与这两个基因座均无连锁关系。
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