Literature DB >> 21274678

Case of Japanese patient with x-linked ocular albinism associated with GPR143 gene mutation.

Masafumi Ohtsubo1, Miho Sato, Akiko Hikoya, Katsuhiro Hosono, Shinsei Minoshima, Yoshihiro Hotta.   

Abstract

Entities:  

Year:  2010        PMID： 21274678     DOI： 10.1007/s10384-010-0872-3

Source DB:  PubMed          Journal:  Jpn J Ophthalmol        ISSN： 0021-5155            Impact factor:   2.447


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  5 in total

Review 1.  Albinism.

Authors:  P E Kinnear; B Jay; C J Witkop
Journal:  Surv Ophthalmol       Date:  1985 Sep-Oct       Impact factor: 6.048

2.  X linked ocular albinism in Japanese patients.

Authors:  T Shiono; M Tsunoda; Y Chida; M Nakazawa; M Tamai
Journal:  Br J Ophthalmol       Date:  1995-02       Impact factor: 4.638

3.  Iris hyperpigmentation in a Chinese family with ocular albinism and the GPR143 mutation.

Authors:  Xueshan Xiao; Qingjiong Zhang
Journal:  Am J Med Genet A       Date:  2009-08       Impact factor: 2.802

4.  Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome.

Authors:  M T Bassi; M V Schiaffino; A Renieri; F De Nigris; L Galli; M Bruttini; M Gebbia; A A Bergen; R A Lewis; A Ballabio
Journal:  Nat Genet       Date:  1995-05       Impact factor: 38.330

5.  Novel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism.

Authors:  Shaohua Fang; Xiangming Guo; Xiaoyun Jia; Xueshan Xiao; Shiqiang Li; Qingjiong Zhang
Journal:  Mol Vis       Date:  2008-10-30       Impact factor: 2.367
  5 in total

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