期刊文献+

Bietti’s crystalline dystrophy in an African American patient: an unusual racial demographic for a condition more common in individuals of East Asian descent

下载PDF
导出
摘要 Dear Editor,The study outlining the manifestations of Bietti’s crystalline dystrophy(BCD)in five Chinese patients offered insights into common disease-causing variants associated with Chinese patients as well as a novel mutation[1].This genetic condition is commonly reported among East Asian populations and to some extent Mediterranean populations[2].
出处 《International Journal of Ophthalmology(English edition)》 SCIE CAS 2021年第8期1291-1292,共2页 国际眼科杂志(英文版)
  • 相关文献

参考文献1

二级参考文献16

  • 1Xueshan Xiao,Guiying Mai,Shiqiang Li,Xiangming Guo,Qingjiong Zhang.Identification of CYP4V2 mutation in 21 families and overview of mutation spectrum in Bietti crystalline corneoretinal dystrophy[J]. Biochemical and Biophysical Research Communications . 2011 (2)
  • 2Juan C. Zenteno,Raul Ayala-Ramirez,Federico Graue-Wiechers.Novel CYP4V2 Gene Mutation in a Mexican Patient with Bietti’s Crystalline Corneoretinal Dystrophy[J]. Current Eye Research . 2008 (4)
  • 3Anren Li,Xiaodong Jiao,Francis L. Munier,Daniel F. Schorderet,Wenliang Yao,Fumino Iwata,Mutsuko Hayakawa,Atsushi Kanai,Muh Shy Chen,Richard Alan Lewis,John Heckenlively,Richard G. Weleber,Elias I. Traboulsi,Qingjiong Zhang,Xueshan Xiao,Muriel Kaiser-Kupfer,Yuri V. Sergeev,J. Fielding Hejtmancik.Bietti Crystalline Corneoretinal Dystrophy Is Caused by Mutations in the Novel Gene CYP4V2[J]. The American Journal of Human Genetics . 2004 (5)
  • 4Xiaodong Jiao,Francis L. Munier,Fumino Iwata,Mutsuko Hayakawa,Atsushi Kanai,June Lee,Daniel F. Schorderet,Muh-Shy Chen,Muriel Kaiser-Kupfer,J. Fielding Hejtmancik.Genetic Linkage of Bietti Crystallin Corneoretinal Dystrophy to Chromosome 4q35[J]. The American Journal of Human Genetics . 2000 (5)
  • 5June Lee,Xiaodong Jiao,J.Fielding Hejtmancik,Muriel Kaiser-Kupfer,Gerald J. Chader.Identification, Isolation, and Characterization of a 32-kDa Fatty Acid-Binding Protein Missing from Lymphocytes in Humans with Bietti Crystalline Dystrophy (BCD)[J]. Molecular Genetics and Metabolism . 1998 (2)
  • 6Dan-Ning Hu.Ophthalmic Genetics in China[J]. Ophthalmic Genetics . 1983 (1)
  • 7Hu D N.Genetic aspects of retinitis pigmentosa in China. American journal of medical genetics . 1982
  • 8Bagolini B,Ioli-Spada G.Bietti’s tapetoretinal degeneration with marginal corneal dystrophy. American Journal of Ophthalmology . 1968
  • 9Kaiser-Kupfer M I,Chan C C,Markello T C,Crawford M A,Caruso R C,Csaky K G,Guo J,Gahl W A.Clinical biochemical and pathologic correlations in Bietti’s crystalline dystrophy. American Journal of Ophthalmology . 1994
  • 10Lee J,Jiao X,Hejtmancik J F,Kaiser-Kupfer M,Gahl W A,Markello T C,Guo J,Chader G J.The metabolism of fatty acids in human Bietti crystalline dystrophy. Investigative Ophthalmology . 2001

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部