Nonsense-Mediated Decay as the Molecular Cause for Autosomal Recessive Bestrophinopathy in Two Unrelated Families

Investigative Ophthalmology and Visual Science - Tập 53 Số 1 - Trang 532 - 2012
Esther Pomares1, Anniken Burés‐Jelstrup2, Sheila Ruiz-Nogales1, Borja Corcóstegui2, Roser Gonzàlez‐Duarte1, Rafael Navarro2
1From the Departament de Genètica, Facultat de Biologia, and the 2Institut de Biomedicina, Universitat de Barcelona, Barcelona, Spain; 3Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Barcelona, Spai
2Instituto de Microcirugía Ocular, Barcelona, Spain

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