期刊文献+
任意字段
题名或关键词
题名
关键词
文摘
作者
第一作者
机构
刊名
分类号
参考文献
作者简介
基金资助
栏目信息

Comment on homozygosity mapping of a consanguineous Pakistani family affected with oculocutaneous albinism to Tyrosinase gene

Comment on homozygosity mapping of a consanguineous Pakistani family affected with oculocutaneous albinism to Tyrosinase gene
下载PDF
导出
摘要 Dear Editor,I have carefully read the article entitled ＂Homozygosity mapping of a consanguineous Pakistani family affected with oculocutaneous albinism to Tyrosinase gene＂,published by Shakil et al in 2016 and found it very interesting for the scientific community. Dear Editor,I have carefully read the article entitled ＂Homozygosity mapping of a consanguineous Pakistani family affected with oculocutaneous albinism to Tyrosinase gene＂,published by Shakil et al in 2016 and found it very interesting for the scientific community.
作者 Muzammil Ahmad Khan
机构地区 Gomal Centre of Biochemistry and Biotechnology
出处 《International Journal of Ophthalmology(English edition)》 SCIE CAS 2017年第5期826-826,共1页 国际眼科杂志（英文版）
关键词 In Comment on homozygosity mapping of a consanguineous Pakistani family affected with oculocutaneous albinism to Tyrosinase gene TYR LOD
分类号 R596 [医药卫生—内科学]
  • 相关文献

参考文献1

二级参考文献12

  • 1Yahalom C, Tzur V, Blumenfeld A, Greifner G, Eli D, Rosenmann A, Glanzer S, Anteby I. Refractive profile in oculocutaneous albinism and its correlation with final visual outcome. Br J Ophthalmol 2012;96(4):537-539.
  • 2King RA, Olds DP, Townsend D. Mechanisms of hypopigmentation in human oculocutaneous albinism. Prog Clin Biol Res 1988;256:183-191.
  • 3Wei AH, Zang DJ, Zhang Z, Liu XZ, He X, Yang L, Wang Y, Zhou ZY, Zhang MR, Dai LL, Yang XM, Li W. Exome sequencing identifies SLC24A5 as a candidate gene for nonsyndromicoculocutaneous albinism. J Invest Dermatol 2013;133(7):1834-1840.
  • 4Gronskov K, Dooley CM, Ostergaard E, Kelsh RN, Hansen L, Levesque MP, Vilhelmsen K, Mollgard K, Stemple DL, Rosenberg T. Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism. Am J Hum Genet 2013;92(3):415-421.
  • 5Kausar T, Bhatti MA, Ali M, Shaikh RS, Ahmed ZM. OCA5, a novel locus for non-syndromicoculocutaneous albinism, maps to chromosome 4q24. Clin Genet 2013;84(1):91-93.
  • 6Tomita Y, Takeda A, Okinaga S, Tagami H, Shibahara S. Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene. Biochem Biophys Res Commun 1989;164(3):990-996.
  • 7Forshew T, Khaliq S, Tee L, Smith U, Johnson CA, Mehdi SQ, Maher ER. Identification of novel TYR and TYRP1 mutations in oculocutaneous albinism. Clin Genet 2005;68(2):182-184.
  • 8Kaul H, Riazuddin SA, Shahid M, Kousar S, Butt NH, Zafar AU, Khan SN, Husnain T, Akram J, Hejtmancik JF, Riazuddin S. Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family. Mol Vis 2010;16:511-517.
  • 9Kaul H, Riazuddin SA, Qazi ZA, Nasir IA, Zafar AU, Khan SN, Husnain T, Akram J, Hejtmancik JF, Riazuddin S. Ectopialentis in a consanguineous pakistani family and a novel locus on chromosome 8q. Arch Ophthalmol 2010;128(8):1046-1049.
  • 10Lathrop GM, Lalouel JM, Julier C, Ott J. Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci 1984;81(11):3443-3446.

共引文献1

International Journal of Ophthalmology(English edition)
2017年 第5期

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