Biochemical heterogeneity of type I collagen mutations in osteogenesis imperfecta.

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作者信息

Bateman J F, Chan D, Lamande S, Mascara T, Cole W G

机构信息

Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, Victoria, Australia.

出版信息

Ann N Y Acad Sci. 1988;543:95-105. doi: 10.1111/j.1749-6632.1988.tb55321.x.

DOI:10.1111/j.1749-6632.1988.tb55321.x

PMID:3214058

Abstract

摘要

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Biochemical heterogeneity of type I collagen mutations in osteogenesis imperfecta.

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引用本文的文献

A 5' splice site mutation affecting the pre-mRNA splicing of two upstream exons in the collagen COL1A1 gene. Exon 8 skipping and altered definition of exon 7 generates truncated pro alpha 1(I) chains with a non-collagenous insertion destabilizing the triple helix.一种影响胶原蛋白COL1A1基因中两个上游外显子前体mRNA剪接的5'剪接位点突变。外显子8跳跃和外显子7定义改变产生截短的前α1（I）链，带有使三螺旋不稳定的非胶原插入序列。

Biochem J. 1994 Sep 15;302 ( Pt 3)(Pt 3):729-35. doi: 10.1042/bj3020729.

Characterization of a type I collagen alpha 2(I) glycine-586 to valine substitution in osteogenesis imperfecta type IV. Detection of the mutation and prenatal diagnosis by a chemical cleavage method.IV型成骨不全中I型胶原α2（I）链甘氨酸586突变为缬氨酸的特征分析。通过化学切割法检测该突变及进行产前诊断。

Biochem J. 1991 Jun 15;276 ( Pt 3)(Pt 3):765-70. doi: 10.1042/bj2760765.

Characterization of three osteogenesis imperfecta collagen alpha 1(I) glycine to serine mutations demonstrating a position-dependent gradient of phenotypic severity.三种成骨不全症胶原蛋白α1（I）甘氨酸至丝氨酸突变的特征分析，显示出表型严重程度的位置依赖性梯度。

Biochem J. 1992 Nov 15;288 ( Pt 1)(Pt 1):131-5. doi: 10.1042/bj2880131.

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