Biallelic Mutations Incrb1underlie Autosomal Recessive Familial Foveal Retinoschisis

Ajoy Vincent,Judith Ng,Christina Gerth-Kahlert,Erika Tavares,Jason T. Maynes,Thomas Wright,Amit Tiwari,Anupreet Tumber,Shuning Li,James V. M. Hanson,Angela Bahr,Heather MacDonald,Luzy Bahr,Carol Westall,Wolfgang Berger,Frans P. M. Cremers,Anneke I. den Hollander,Elise Heon

Investigative Ophthalmology & Visual Science（2016）

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关键词

retinoschisis,macular degeneration,macular edema,familial foveal retinoschisis,human CRB1 protein,optical coherence tomography,electroretinogram (ERG),electroretinography

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