Pyridinium cross-links in heritable disorders of collagen.
作者信息
Pasquali N, Still M J, Dembure P P, Elsas L J
出版信息
Am J Hum Genet. 1995 Dec;57(6):1508-10.
Abstract
摘要
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本文引用的文献
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A large duplication in the gene for lysyl hydroxylase accounts for the type VI variant of Ehlers-Danlos syndrome in two siblings.赖氨酸羟化酶基因的大片段重复导致了两名同胞患埃勒斯-当洛综合征VI型变异。
Genomics. 1993 Feb;15(2):399-404. doi: 10.1006/geno.1993.1074.
2
Urinary pyridinium cross-links: a noninvasive diagnostic test for Ehlers-Danlos syndrome type VI.尿吡啶交联：一种用于诊断Ⅵ型埃勒斯-当洛综合征的非侵入性检测方法。
N Engl J Med. 1994 Jul 14;331(2):132-3. doi: 10.1056/NEJM199407143310217.
3
A patient with Ehlers-Danlos syndrome type VI is a compound heterozygote for mutations in the lysyl hydroxylase gene.患有Ⅵ型埃勒斯-当洛综合征的患者是赖氨酸羟化酶基因突变的复合杂合子。
J Clin Invest. 1994 Apr;93(4):1716-21. doi: 10.1172/JCI117155.
4
Osteopathia striata with cranial sclerosis.
Pediatr Radiol. 1994;24(1):56-60. doi: 10.1007/BF02017665.
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Quantitation of hydroxypyridinium crosslinks in collagen by high-performance liquid chromatography.通过高效液相色谱法定量测定胶原蛋白中的羟基吡啶交联物
Anal Biochem. 1984 Mar;137(2):380-8. doi: 10.1016/0003-2697(84)90101-5.
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Cross-linking in collagen and elastin.胶原蛋白和弹性蛋白中的交联
Annu Rev Biochem. 1984;53:717-48. doi: 10.1146/annurev.bi.53.070184.003441.
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A heritable disorder of connective tissue. Hydroxylysine-deficient collagen disease.一种遗传性结缔组织疾病。羟赖氨酸缺乏性胶原病。
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Reducible crosslinks in hydroxylysine-deficient collagens of a heritable disorder of connective tissue.遗传性结缔组织疾病中羟赖氨酸缺乏型胶原蛋白的可还原交联
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Proc Natl Acad Sci U S A. 1972 Oct;69(10):2899-903. doi: 10.1073/pnas.69.10.2899.
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