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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Detalles Bibliográficos
Autores principales: Qu, Ling-hui, Jin, Xin, Zeng, Chao, Zhou, Nian-gou, Liu, Yan-hong, Lin, Ye
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Portland Press Ltd. 2021
Materias:
Genomics
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

Internet

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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