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Novel variants of ABCA4 in Han Chinese families with Stargardt disease

BACKGROUND: Stargardt disease (STGD1) is a common recessive hereditary macular dystrophy in early adulthood or childhood, with an estimated prevalence of 1:8000 to 1:10,000. ABCA4 is the causative gene for STGD1. The current study aims at identifying the novel disease-related ABCA4 variants in Han C...

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Detalles Bibliográficos
Autores principales:	Hu, Fang-Yuan, Gao, Feng-Juan, Li, Jian-kang, Xu, Ping, Wang, Dan-Dan, Zhang, Sheng-Hai, Wu, Ji-Hong
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2020
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7602306/ https://www.ncbi.nlm.nih.gov/pubmed/33129279 http://dx.doi.org/10.1186/s12881-020-01152-5

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