Literature DB >> 18332330

Clinical manifestation of a novel PAX6 mutation Arg128Pro.

Cecilie Bredrup1, Per M Knappskog, Eyvind Rødahl, Helge Boman.   

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Year:  2008        PMID: 18332330     DOI: 10.1001/archopht.126.3.428

Source DB:  PubMed          Journal:  Arch Ophthalmol        ISSN: 0003-9950


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  4 in total

1.  Mild aniridia phenotype: an under-recognized diagnosis of a severe inherited ocular disease.

Authors:  Claudia Yahalom; Anat Blumenfeld; Karen Hendler; Orly Wussuki-Lior; Michal Macarov; Mordechai Shohat; Samer Khateb
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2018-08-30       Impact factor: 3.117

2.  Molecular genetics of familial nystagmus complicated with cataract and iris anomalies.

Authors:  Naihong Yan; Yongwang Zhao; Yun Wang; Airui Xie; Haitao Huang; Wenhan Yu; Xuyang Liu; Su-ping Cai
Journal:  Mol Vis       Date:  2011-10-05       Impact factor: 2.367

3.  Color Vision in Aniridia.

Authors:  Hilde R Pedersen; Lene A Hagen; Erlend C S Landsend; Stuart J Gilson; Øygunn A Utheim; Tor P Utheim; Maureen Neitz; Rigmor C Baraas
Journal:  Invest Ophthalmol Vis Sci       Date:  2018-04-01       Impact factor: 4.799

4.  PAX6 mutation alters circadian rhythm and β cell function in mice without affecting glucose tolerance.

Authors:  Nirav Florian Chhabra; Oana Veronica Amarie; Moya Wu; Anna-Lena Amend; Marina Rubey; Daniel Gradinger; Martin Irmler; Johannes Beckers; Birgit Rathkolb; Eckhard Wolf; Annette Feuchtinger; Peter Huypens; Raffaele Teperino; Jan Rozman; Gerhard K H Przemeck; Martin Hrabě de Angelis
Journal:  Commun Biol       Date:  2020-10-30
  4 in total

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