Inherited abnormalities of collagen.
作者信息
Pope F M
出版信息
J Med Genet. 1981 Apr;18(2):142-3. doi: 10.1136/jmg.18.2.142.
Abstract
摘要
相似文献
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J Med Genet. 1981 Apr;18(2):142-3. doi: 10.1136/jmg.18.2.142.
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本文引用的文献
1
Thermal stability of type I and type III procollagens from normal human fibroblasts and from a patient with osteogenesis imperfecta.来自正常人成纤维细胞和一名成骨不全症患者的I型和III型前胶原的热稳定性。
Proc Natl Acad Sci U S A. 1980 Jan;77(1):162-6. doi: 10.1073/pnas.77.1.162.
2
X-linked cutis laxa: defective cross-link formation in collagen due to decreased lysyl oxidase activity.X连锁隐性遗传性皮肤松弛症：由于赖氨酰氧化酶活性降低，胶原蛋白中交联形成存在缺陷。
N Engl J Med. 1980 Jul 10;303(2):61-5. doi: 10.1056/NEJM198007103030201.
3
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。
N Engl J Med. 1972 May 11;286(19):1013-20. doi: 10.1056/NEJM197205112861901.
4
Defect in conversion of procollagen to collagen in a form of Ehlers-Danlos syndrome.以埃勒斯-当洛综合征的形式存在的前胶原转化为胶原的缺陷。
Science. 1973 Oct 19;182(4109):298-300. doi: 10.1126/science.182.4109.298.
5
A hereditary skin defect in sheep.绵羊的一种遗传性皮肤缺陷。
Acta Vet Scand. 1972;13(3):443-5. doi: 10.1186/BF03547060.
6
Patients with Ehlers-Danlos syndrome type IV lack type III collagen.患有IV型埃勒斯-当洛综合征的患者缺乏III型胶原蛋白。
Proc Natl Acad Sci U S A. 1975 Apr;72(4):1314-6. doi: 10.1073/pnas.72.4.1314.
7
Inheritance of Ehlers-Danlos type IV syndrome.埃勒斯-当洛综合征IV型的遗传方式。
J Med Genet. 1977 Jun;14(3):200-4. doi: 10.1136/jmg.14.3.200.
8
Lysyl oxidase deficiency in Ehlers-Danlos syndrome type V.Ⅴ型埃勒斯-当洛综合征中的赖氨酰氧化酶缺乏症
Connect Tissue Res. 1975;3(1):49-53. doi: 10.3109/03008207509152341.
9
Transient hypoxaemia during sleep in chronic bronchitis and emphysema.慢性支气管炎和肺气肿患者睡眠期间的短暂低氧血症。
Lancet. 1979 Jan 6;1(8106):1-4. doi: 10.1016/s0140-6736(79)90451-3.
10
Cross-linking of collagen in the X-linked Ehlers-Danlos Type V.X连锁Ⅴ型埃勒斯-当洛综合征中胶原蛋白的交联
Biochem Biophys Res Commun. 1979 May 14;88(1):281-7. doi: 10.1016/0006-291x(79)91727-3.
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