成骨不全症：临床异质性的分子基础。 - Suppr

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超能文献

Osteogenesis imperfecta: the molecular basis of clinical heterogeneity.

作者信息

Byers P H, Bonadio J F, Cohn D H, Starman B J, Wenstrup R J, Willing M C

机构信息

Department of Pathology, University of Washington, Seattle 98195.

出版信息

Ann N Y Acad Sci. 1988;543:117-28. doi: 10.1111/j.1749-6632.1988.tb55324.x.

DOI:10.1111/j.1749-6632.1988.tb55324.x

PMID:3063158

Abstract

摘要

相似文献

Osteogenesis imperfecta: the molecular basis of clinical heterogeneity.成骨不全症：临床异质性的分子基础。

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New insights into the molecular pathology of osteogenesis imperfecta.成骨不全分子病理学的新见解。

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Osteogenesis imperfecta: translation of mutation to phenotype.成骨不全症：从突变到表型的转化

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Advances in osteogenesis imperfecta.成骨不全症的研究进展

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Delayed triple-helix formation of abnormal type I collagen is corrected by reduced temperature. Studies of a family with variable expression of osteogenesis imperfecta.异常I型胶原延迟三螺旋形成可通过降低温度得到纠正。成骨不全症可变表达家系的研究。

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Gene symbol: COL1A2. Disease: osteogenesis imperfecta type II.基因符号：COL1A2。疾病：II型成骨不全症。

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Normal thermal stability of an overmodified type I collagen despite a structural mutation within the triple helical region in a case of osteogenesis imperfecta type IVB.IVB型成骨不全症患者中，尽管三螺旋区域存在结构突变，但过度修饰的I型胶原蛋白仍具有正常的热稳定性。

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Clinical and genetical heterogeneity of osteogenesis imperfecta.成骨不全症的临床和遗传异质性。

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Osteogenesis Imperfecta: A Review with Clinical Examples.成骨不全症：附临床实例的综述

Mol Syndromol. 2011 Dec;2(1):1-20. doi: 10.1159/000332228. Epub 2011 Oct 12.

Tooth dentin defects reflect genetic disorders affecting bone mineralization.牙本质缺损反映了影响骨矿化的遗传疾病。

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Defective pro alpha 2(I) collagen synthesis in a recessive mutation in mice: a model of human osteogenesis imperfecta.小鼠隐性突变中α2（I）前胶原合成缺陷：人类成骨不全症模型

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Variable expression of osteogenesis imperfecta in a nuclear family is explained by somatic mosaicism for a lethal point mutation in the alpha 1(I) gene (COL1A1) of type I collagen in a parent.一个核心家庭中出现的成骨不全症的可变表达，是由一位家长的I型胶原蛋白α1（I）基因（COL1A1）中的致死性点突变的体细胞镶嵌现象所解释的。

Am J Hum Genet. 1990 Jun;46(6):1034-40.

Phenotypic heterogeneity in osteogenesis imperfecta: the mildly affected mother of a proband with a lethal variant has the same mutation substituting cysteine for alpha 1-glycine 904 in a type I procollagen gene (COL1A1).

Am J Hum Genet. 1990 Oct;47(4):670-9.

A single base mutation in type I procollagen (COL1A1) that converts glycine alpha 1-541 to aspartate in a lethal variant of osteogenesis imperfecta: detection of the mutation with a carbodiimide reaction of DNA heteroduplexes and direct sequencing of products of the PCR.I型前胶原（COL1A1）中的一个单碱基突变，在成骨不全致死变异体中将甘氨酸α1-541转变为天冬氨酸：通过DNA异源双链体的碳二亚胺反应检测该突变以及对PCR产物进行直接测序。

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Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia.II型胶原蛋白基因（COL2A1）中的单碱基突变是与轻度软骨发育不良相关的原发性骨关节炎的病因。

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An osteopenic nonfracture syndrome with features of mild osteogenesis imperfecta associated with the substitution of a cysteine for glycine at triple helix position 43 in the pro alpha 1(I) chain of type I collagen.一种骨质减少性非骨折综合征，具有轻度成骨不全的特征，与I型胶原蛋白α1（I）链三螺旋位置43处的半胱氨酸替代甘氨酸有关。

J Clin Invest. 1992 Feb;89(2):567-73. doi: 10.1172/JCI115622.

Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy).黏多糖贮积症（关节眼病）家族中Ⅱ型前胶原基因（COL2A1）的终止密码子

Proc Natl Acad Sci U S A. 1991 Aug 1;88(15):6624-7. doi: 10.1073/pnas.88.15.6624.

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