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  Ophthalmology

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Articles published in PLoS Genet

Retrieve available abstracts of 4 articles:
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    April 2017
  1. TERZENIDOU ME, Segklia A, Kano T, Papastefanaki F, et al
    Novel insights into SLC25A46-related pathologies in a genetic mouse model.
    PLoS Genet. 2017;13:e1006656.
    PubMed     Text format     Abstract available


    June 2016
  2. CHEN JH, Huang C, Zhang B, Yin S, et al
    Mutations of RagA GTPase in mTORC1 Pathway Are Associated with Autosomal Dominant Cataracts.
    PLoS Genet. 2016;12:e1006090.
    PubMed     Text format     Abstract available


    February 2016
  3. ELOY P, Dehainault C, Sefta M, Aerts I, et al
    A Parent-of-Origin Effect Impacts the Phenotype in Low Penetrance Retinoblastoma Families Segregating the c.1981C>T/p.Arg661Trp Mutation of RB1.
    PLoS Genet. 2016;12:e1005888.
    PubMed     Text format     Abstract available


    January 2016
  4. BECIROVIC E, Bohm S, Nguyen ON, Riedmayr LM, et al
    In Vivo Analysis of Disease-Associated Point Mutations Unveils Profound Differences in mRNA Splicing of Peripherin-2 in Rod and Cone Photoreceptors.
    PLoS Genet. 2016;12:e1005811.
    PubMed     Text format     Abstract available


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