The identification of a RNA splice variant in TULP1 in two siblings with early‐onset photoreceptor dystrophy

BACKGROUND: Early‐onset photoreceptor dystrophies are a major cause of irreversible visual impairment in children and young adults. This clinically heterogeneous group of disorders can be caused by mutations in many genes. Nevertheless, to date, 30%–40% of cases remain genetically unexplained. In vi...

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Detalles Bibliográficos
Autores principales: Verbakel, Sanne K., Fadaie, Zeinab, Klevering, B. Jeroen, van Genderen, Maria M., Feenstra, Ilse, Cremers, Frans P. M., Hoyng, Carel B., Roosing, Susanne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6565574/
https://www.ncbi.nlm.nih.gov/pubmed/30950243
http://dx.doi.org/10.1002/mgg3.660

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