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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...

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Publicado en:Biosci Rep
Main Authors: Qu, Ling-hui, Jin, Xin, Zeng, Chao, Zhou, Nian-gou, Liu, Yan-hong, Lin, Ye
Formato: Artigo
Idioma:Inglês
Publicado: Portland Press Ltd. 2021
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC8173525/
https://ncbi.nlm.nih.gov/pubmed/33988224
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1042/BSR20203497
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