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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...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2019
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Materias: | |
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 |