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The intronic ABCA4 c.5461‐10T>C variant,frequently seen in patients with Stargardt disease,causes splice defects and reduced ABCA4 protein level
Authors:Ingvild Aukrust  Ragnhild W. Jansson  Cecilie Bredrup  Hilde E. Rusaas  Siren Berland  Agnete Jørgensen  Marte G. Haug  Eyvind Rødahl  Gunnar Houge  Per M. Knappskog
Affiliation:1. Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway;2. Department of Ophthalmology, Haukeland University Hospital, Bergen, Norway;3. Department of Clinical Medicine, University of Bergen, Bergen, Norway;4. Division of Child and Adolescent Health, Medical Genetics Department, University Hospital of North Norway, Troms?, Norway;5. Department of Pathology and Medical Genetics, St. Olav's University Hospital, Trondheim, Norway;6. Department of Clinical Science, University of Bergen, Bergen, Norway
Abstract:
Keywords:   ABCA4     intronic variant  splicing  Stargardt
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