Literature DB >> 10477494

Run-on mutation and three novel nonsense mutations identified in the PAX6 gene in patients with aniridia.

L Baum1, C P Pang, D S Fan, P M Poon, Y F Leung, J K Chua, D S Lam.   

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Year:  1999        PMID： 10477494     DOI： 10.1002/(SICI)1098-1004(1999)14:3<272::AID-HUMU21>3.0.CO;2-V

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  8 in total

1.  Pax6 localizes to chromatin-rich territories and displays a slow nuclear mobility altered by disease mutations.

Authors:  Julianne Elvenes; Eva Sjøttem; Turid Holm; Geir Bjørkøy; Terje Johansen
Journal:  Cell Mol Life Sci       Date:  2010-06-25       Impact factor: 9.261

2.  Abnormal cone ERGs in a family with congenital nystagmus and photophobia harboring a p.X423Lfs mutation in the PAX6 gene.

Authors:  Michael Philip Hood; Natalie Christine Kerr; Nizar Smaoui; Alessandro Iannaccone
Journal:  Doc Ophthalmol       Date:  2015-01-03       Impact factor: 2.379

3.  PAX6 analysis of one family and one sporadic patient from southern China with classic aniridia.

Authors:  Ying Lin; Xialin Liu; Xuanwei Liang; Baoxin Li; Shuhong Jiang; Shaobi Ye; Huiqin Yang; Bingsheng Lou; Yizhi Liu
Journal:  Mol Vis       Date:  2011-11-26       Impact factor: 2.367

4.  Mutation spectrum of PAX6 in Chinese patients with aniridia.

Authors:  Xiaohui Zhang; Panfeng Wang; Shiqiang Li; Xueshan Xiao; Xiangming Guo; Qingjiong Zhang
Journal:  Mol Vis       Date:  2011-08-11       Impact factor: 2.367

Review 5.  Clinical and molecular aspects of congenital aniridia - A review of current concepts.

Authors:  Shailja Tibrewal; Ria Ratna; Abha Gour; Sumita Agarkar; Suneeta Dubey; Suma Ganesh; Ramesh Kekunnaya; Virender Sangwan; Yutao Liu; Vanita Vanita
Journal:  Indian J Ophthalmol       Date:  2022-07       Impact factor: 2.969

6.  A rare case of congenital aniridia with an unusual run-on mutation in PAX6 gene.

Authors:  Ria Ratna; Shailja Tibrewal; Abha Gour; Reena Gupta; Umang Mathur; Vanita Vanita
Journal:  Indian J Ophthalmol       Date:  2022-07       Impact factor: 2.969

7.  Eye anomalies and neurological manifestations in patients with PAX6 mutations.

Authors:  Yin-Hsuan Chien; Hsiang-Po Huang; Wuh-Liang Hwu; Yin-Hsiu Chien; Tseng-Ching Chang; Ni-Chung Lee
Journal:  Mol Vis       Date:  2009-10-22       Impact factor: 2.367

8.  Absence of NR2E1 mutations in patients with aniridia.

Authors:  Ximena Corso-Díaz; Adrienne E Borrie; Russell Bonaguro; Johanna M Schuetz; Thomas Rosenberg; Hanne Jensen; Brian P Brooks; Ian M Macdonald; Francesca Pasutto; Michael A Walter; Karen Grønskov; Angela Brooks-Wilson; Elizabeth M Simpson
Journal:  Mol Vis       Date:  2012-11-22       Impact factor: 2.367
  8 in total

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