Clinical and genetic analyses reveal novel pathogenic ABCA4 mutations in Stargardt disease families

Stargardt disease (STGD1) is a juvenile macular degeneration predominantly inherited in an autosomal recessive pattern, characterized by decreased central vision in the first 2 decades of life. The condition has a genetic basis due to mutation in the ABCA4 gene, and arises from the deposition of lip...

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Detalles Bibliográficos
Autores principales: Lin, Bing, Cai, Xue-Bi, Zheng, Zhi-Li, Huang, Xiu-Feng, Liu, Xiao-Ling, Qu, Jia, Jin, Zi-Bing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5064356/
https://www.ncbi.nlm.nih.gov/pubmed/27739528
http://dx.doi.org/10.1038/srep35414

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5064356/
https://www.ncbi.nlm.nih.gov/pubmed/27739528
http://dx.doi.org/10.1038/srep35414

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