II型胶原蛋白（COL2A1）中的三个新的点突变以及使用构象敏感凝胶电泳鉴定出第四例携带COL2A1基因精氨酸519突变为半胱氨酸碱基替换的家系。 - Suppr

Suppr

超能文献

Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the COL2A1 Arg519-->Cys base substitution using conformation sensitive gel electrophoresis.

作者信息

Williams C J, Rock M, Considine E, McCarron S, Gow P, Ladda R, McLain D, Michels V M, Murphy W, Prockop D J

机构信息

Department of Biochemistry and Molecular Biology, Thomas Jefferson University, Philadelphia, PA 19107, USA.

出版信息

Hum Mol Genet. 1995 Feb;4(2):309-12. doi: 10.1093/hmg/4.2.309.

DOI:10.1093/hmg/4.2.309

PMID:7757086

Abstract

摘要

相似文献

Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the COL2A1 Arg519-->Cys base substitution using conformation sensitive gel electrophoresis.II型胶原蛋白（COL2A1）中的三个新的点突变以及使用构象敏感凝胶电泳鉴定出第四例携带COL2A1基因精氨酸519突变为半胱氨酸碱基替换的家系。

Hum Mol Genet. 1995 Feb;4(2):309-12. doi: 10.1093/hmg/4.2.309.

Spondyloepiphyseal dysplasia and precocious osteoarthritis in a family with an Arg75-->Cys mutation in the procollagen type II gene (COL2A1).一个家族中因II型前胶原基因（COL2A1）发生精氨酸75突变为半胱氨酸而导致脊椎骨骺发育不良和早发性骨关节炎。

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A single base mutation in the type II procollagen gene (COL2A1) that converts glycine alpha 1-247 to serine in a family with late-onset spondyloepiphyseal dysplasia.在一个患有迟发性脊椎骨骺发育不良的家族中，II型胶原蛋白基因（COL2A1）发生单碱基突变，导致α1-247位的甘氨酸转变为丝氨酸。

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Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha 1-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy).II型胶原蛋白（COL2A1）发生突变，用天冬氨酸替代α1-67位的甘氨酸，导致白内障和视网膜脱离：Wagner综合征和Stickler综合征（关节眼病）分子异质性的证据。

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Am J Med Genet. 1996 Jun 14;63(3):461-7. doi: 10.1002/(SICI)1096-8628(19960614)63:3<461::AID-AJMG9>3.0.CO;2-U.

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Hum Mol Genet. 1994 Oct;3(10):1891-3. doi: 10.1093/hmg/3.10.1891.

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Am J Hum Genet. 2001 Jun;68(6):1386-97. doi: 10.1086/320592. Epub 2001 May 8.

Variation in the vitreous phenotype of Stickler syndrome can be caused by different amino acid substitutions in the X position of the type II collagen Gly-X-Y triple helix.史迪格勒综合征玻璃体表型的变异可能由II型胶原Gly-X-Y三螺旋X位置的不同氨基酸取代引起。

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