Molecular abnormalities of collagen in human disease.
作者信息
Pope F M, Nicholls A C
出版信息
Arch Dis Child. 1987 May;62(5):523-8. doi: 10.1136/adc.62.5.523.
Abstract
摘要
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J R Soc Med. 1980 Mar;73(3):180-6.
2
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Proc Natl Acad Sci U S A. 1982 Jun;79(12):3838-42. doi: 10.1073/pnas.79.12.3838.
3
Marfan syndrome: abnormal alpha 2 chain in type I collagen.
Proc Natl Acad Sci U S A. 1981 Dec;78(12):7745-9. doi: 10.1073/pnas.78.12.7745.
4
Reduced secretion of structurally abnormal type I procollagen in a form of osteogenesis imperfecta.
Proc Natl Acad Sci U S A. 1981 Aug;78(8):5142-6. doi: 10.1073/pnas.78.8.5142.
5
Abnormal alpha 2-chain in type I collagen from a patient with a form of osteogenesis imperfecta.
J Clin Invest. 1983 Mar;71(3):689-97. doi: 10.1172/jci110815.
6
Osteogenesis imperfecta: update and perspective.
Am J Med Genet. 1984 Feb;17(2):429-35. doi: 10.1002/ajmg.1320170206.
7
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J Biol Chem. 1983 Nov 10;258(21):13391-401.
8
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Proc Natl Acad Sci U S A. 1983 Jun;80(11):3168-72. doi: 10.1073/pnas.80.11.3168.
9
The clinical features of homozygous alpha 2(I) collagen deficient osteogenesis imperfecta.
J Med Genet. 1984 Aug;21(4):257-62. doi: 10.1136/jmg.21.4.257.
10
Cysteine in the triple-helical domain of one allelic product of the alpha 1(I) gene of type I collagen produces a lethal form of osteogenesis imperfecta.
J Biol Chem. 1984 Sep 10;259(17):11129-38.
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