Author:
Yoshida S,Yamaji Y,Kuwahara R,Yoshida A,Hisatomi T,Ueno A,Ishibashi T
Publisher
Springer Science and Business Media LLC
Reference6 articles.
1. Snead MP, Yates JR . Clinical and molecular genetics of Stickler syndrome. J Med Genet 1999; 36: 353–359.
2. Parke DW . Stickler syndrome: clinical care and molecular genetics. Am J Ophthalmol 2002; 134: 746–748.
3. Richards AJ, Baguley DM, Yates JR, Lane C, Nicol M, Harper PS et al. 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. Am J Hum Genet 2000; 67: 1083–1094.
4. Richards AJ, Martin S, Yates JR, Scott JD, Baguley DM, Pope FM et al. COL2A1 exon 2 mutations: relevance to the Stickler and Wagner syndromes. Br J Ophthalmol 2000; 84: 364–371.
5. Donoso LA, Edwards AO, Frost AT, Ritter R, Ahmad NN, Vrabec T et al. Identification of a stop codon mutation in exon 2 of the collagen 2A1 gene in a large stickler syndrome family. Am J Ophthalmol 2002; 134: 720–727.
Cited by
10 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