Novel mutation in exon 2 of COL2A1 gene in Japanese family with Stickler Syndrome type I
暂无分享,去创建一个
A. Yoshida | T. Hisatomi | T. Ishibashi | A. Ueno | Y. Yamaji | S. Yoshida | R. Kuwahara
[1] L. Ala‐Kokko,et al. Radial perivascular retinal degeneration: a key to the clinical diagnosis of an ocular variant of Stickler syndrome with minimal or no systemic manifestations. , 2002, American journal of ophthalmology.
[2] D. Parke. Stickler syndrome: clinical care and molecular genetics. , 2002, American journal of ophthalmology.
[3] A. Edwards,et al. Identification of a stop codon mutation in exon 2 of the collagen 2A1 gene in a large stickler syndrome family. , 2002, American journal of ophthalmology.
[4] P. Harper,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. , 2000, American journal of human genetics.
[5] J. Yates,et al. COL2A1 exon 2 mutations: relevance to the Stickler and Wagner syndromes , 2000, The British journal of ophthalmology.
[6] J. Yates,et al. Clinical and molecular genetics of Stickler syndrome , 1999, Journal of medical genetics.