Novel Mutation in BEST1 Associated With Retinoschisis

التفاصيل البيبلوغرافية
العنوان: Novel Mutation in BEST1 Associated With Retinoschisis
المؤلفون: Thomas A. Albini, Byron L. Lam, Ruwan A. Silva, Audina M. Berrocal
المصدر: JAMA Ophthalmology. 131:794
بيانات النشر: American Medical Association (AMA), 2013.
سنة النشر: 2013
مصطلحات موضوعية: Male, Retinoschisis, DNA Mutational Analysis, Mutation, Missense, Visual Acuity, BEST1 gene, Chloride Channels, Electroretinography, Humans, Medicine, Genetic Predisposition to Disease, Bestrophins, Fluorescein Angiography, Child, Eye Proteins, Genetics, business.industry, Siblings, medicine.disease, Vitelliform Macular Dystrophy, Electrooculography, Ophthalmology, Phenotype, Mutation (genetic algorithm), Female, business, Novel mutation, Tomography, Optical Coherence
تدمد: 2168-6165
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b23a6dbaad01b353a64145c03a809314Test
https://doi.org/10.1001/jamaophthalmol.2013.2047Test
حقوق: OPEN
رقم الانضمام: edsair.doi.dedup.....b23a6dbaad01b353a64145c03a809314
قاعدة البيانات: OpenAIRE