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.
Cited by
17 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献