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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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Bibliografski detalji
Izdano u:Biosci Rep
Glavni autori: Qu, Ling-hui, Jin, Xin, Zeng, Chao, Zhou, Nian-gou, Liu, Yan-hong, Lin, Ye
Format: Artigo
Jezik:Inglês
Izdano: Portland Press Ltd. 2021
Teme:
Online pristup: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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