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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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Dettagli Bibliografici
Pubblicato in:Biosci Rep
Autori principali: Qu, Ling-hui, Jin, Xin, Zeng, Chao, Zhou, Nian-gou, Liu, Yan-hong, Lin, Ye
Natura: Artigo
Lingua:Inglês
Pubblicazione: Portland Press Ltd. 2021
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Accesso online: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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