Substitution of cysteine for glycine at residue 415 of one allele of the alpha 1(I) chain of type I procollagen in type III/IV osteogenesis imperfecta.

Author:

Nicholls A C,Oliver J,Renouf D V,Keston M,Pope F M

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference30 articles.

1. Multiexon deletion in an osteogenesis imperfecta variant with increased type III collagen mRNA;Chu, M.L.; Gargiulo, V.; Williams, C.J.; Ramirez, F.;J Biol Chem,1985

2. Intron mediated recombination may cause a deletion in an al type I collagen chain in a lethal form;Barsh, G.S.; Roush, C.L.; Bonadio, J.; Byers, P.H.; Gelinas, R.E.,1985

3. A novel mutation causes a perinatal lethal form of osteogenesis imperfecta-an insertion in one al(I) allele (COLlAI);Byers, P.H.; Starman, B.J.; Cohn, D.H.; Horwitz, A.L.;J Biol Chem,1988

4. Single base mutation in the proa2(I) collagen gene that causes efficient splicing of RNA from exon 27 to exon 29 and synthesis of a shortened but;Tromp, G.; Prockop, D.J.,1988

5. A 19-base pair deletion in the pro a2(I) gene of type I procollagen that causes in-frame RNA splicing from exon 10 to exon 12 in a proband with atypical osteogenesis imperfecta and his asymptomatic mother;Kuivaniemi, H.; Sabol, C.; Tromp, G.; Sippola-Thiele, M.; Prockop, D.J.;J Biol Chem,1988

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3