Mutations in collagen genes. Consequences for rare and common diseases.
作者信息
Prockop D J
出版信息
J Clin Invest. 1985 Mar;75(3):783-7. doi: 10.1172/JCI111773.
Abstract
摘要
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Mutations in collagen genes. Consequences for rare and common diseases.胶原蛋白基因中的突变。对罕见病和常见疾病的影响。
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Homozygosity for a splice site mutation of the COL1A2 gene yields a non-functional pro(alpha)2(I) chain and an EDS/OI clinical phenotype.COL1A2基因剪接位点突变的纯合性会产生无功能的前α2（I）链和埃勒斯-当洛综合征/成骨不全临床表型。
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本文引用的文献
1
The collagen gene: evidence for its evolutinary assembly by amplification of a DNA segment containing an exon of 54 bp.胶原蛋白基因：通过扩增一个包含54个碱基对外显子的DNA片段对其进化组装的证据。
Cell. 1980 Dec;22(3):887-92. doi: 10.1016/0092-8674(80)90565-6.
2
Osteogenesis imperfecta: an expanding panorama of variants.成骨不全症：不断扩展的变异全景。
Clin Orthop Relat Res. 1981 Sep(159):11-25.
3
The collagen alpha-2 chain gene.胶原蛋白α-2链基因
J Invest Dermatol. 1982 Jul;79 Suppl 1:60s-64s. doi: 10.1111/1523-1747.ep12545778.
4
Marfan syndrome: abnormal alpha 2 chain in type I collagen.马凡综合征：I型胶原蛋白中的α2链异常。
Proc Natl Acad Sci U S A. 1981 Dec;78(12):7745-9. doi: 10.1073/pnas.78.12.7745.
5
Reduced secretion of structurally abnormal type I procollagen in a form of osteogenesis imperfecta.以成骨不全症形式存在的结构异常的I型前胶原分泌减少。
Proc Natl Acad Sci U S A. 1981 Aug;78(8):5142-6. doi: 10.1073/pnas.78.8.5142.
6
A defect in the structure of type I procollagen in a patient who had osteogenesis imperfecta: excess mannose in the COOH-terminal propeptide.一名患有成骨不全症患者的I型前胶原结构缺陷：羧基末端前肽中存在过量甘露糖。
Proc Natl Acad Sci U S A. 1980 Oct;77(10):6179-83. doi: 10.1073/pnas.77.10.6179.
7
8
Abnormal alpha 2-chain in type I collagen from a patient with a form of osteogenesis imperfecta.一名患有某种成骨不全症患者的I型胶原蛋白中α2链异常。
J Clin Invest. 1983 Mar;71(3):689-97. doi: 10.1172/jci110815.
9
Genetic disorders of collagen metabolism.胶原蛋白代谢的遗传性疾病。
Adv Hum Genet. 1982;12:1-87. doi: 10.1007/978-1-4615-8315-8_1.
10
Evidence for a structural mutation of procollagen type I in a patient with the Ehlers-Danlos syndrome type VII.一名患有VII型埃勒斯-当洛综合征患者的I型前胶原结构突变的证据。
J Biol Chem. 1980 Sep 25;255(18):8887-93.
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