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Targeted next-generation sequencing identifies ABCA4 mutations in Chinese families with childhood-onset and adult-onset Stargardt disease
Background: Stargardt disease (STGD) is the most common form of juvenile macular dystrophy associated with progressive central vision loss, and is agenetically and clinically heterogeneous disease. Molecular diagnosis is of great significance in aiding the clinical diagnosis, helping to determine th...
Autores principales: | Qu, Ling-hui, Jin, Xin, Zeng, Chao, Zhou, Nian-gou, Liu, Yan-hong, Lin, Ye |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Portland Press Ltd.
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8173525/ https://www.ncbi.nlm.nih.gov/pubmed/33988224 http://dx.doi.org/10.1042/BSR20203497 |
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