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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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| Publicado no: | BMC Med Genet |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7602306/ https://ncbi.nlm.nih.gov/pubmed/33129279 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-020-01152-5 |
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