Novel and recurrent COL11A1 and COL2A1 mutations in the Marshall–Stickler syndrome spectrum

Author:

Guo Long,Elcioglu Nursel H,Wang Zheng,Demirkol Yasemin K,Isguven Pinar,Matsumoto Naomichi,Nishimura Gen,Miyake Noriko,Ikegawa Shiro

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,Biochemistry

Reference24 articles.

1. Stickler GB, Belau PG, Farrell FJ, Jones JD, Pugh DG, Steinberg AG et al. Hereditary progressive arthro-ophthalmopathy. Mayo Clin Proc 1965; 40: 433–455.

2. Marshall D . Ectodermal dysplasia; report of kindred with ocular abnormalities and hearing defect. Am J Ophthalmol 1958; 45: 143–156.

3. Baraitser M . Marshall/Stickler syndrome. J Med Genet 1982; 19: 139–140.

4. Ahmad NN, Ala-Kokko L, Knowlton RG, Jimenez SA, Weaver EJ, Maguire JI et al. Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy). Proc Natl Acad Sci USA 1991; 88: 6624–6627.

5. Ahmad NN, McDonald-McGinn DM, Zackai EH, Knowlton RG, LaRossa D, DiMascio J et al. A second mutation in the type II procollagen gene (COL2AI) causing stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon. Am J Hum Genet 1993; 52: 39–45.

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