The intronicABCA4c.5461-10T>C variant, frequently seen in patients with Stargardt disease, causes splice defects and reduced ABCA4 protein level

Author:

Aukrust Ingvild1,Jansson Ragnhild W.23,Bredrup Cecilie2,Rusaas Hilde E.1,Berland Siren1,Jørgensen Agnete4,Haug Marte G.5,Rødahl Eyvind23,Houge Gunnar1,Knappskog Per M.16

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; Tromsø 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

Funder

European Human Genetics Conference (ESHG)

Publisher

Wiley

Subject

Ophthalmology,General Medicine

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