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Molecular diagnosis of putative Stargardt disease probands by exome sequencing

BACKGROUND: The commonest genetic form of juvenile or early adult onset macular degeneration is Stargardt Disease (STGD) caused by recessive mutations in the gene ABCA4. However, high phenotypic and allelic heterogeneity and a small but non-trivial amount of locus heterogeneity currently impede conc...

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Detalles Bibliográficos
Autores principales:	Strom, Samuel P, Gao, Yong-Qing, Martinez, Ariadna, Ortube, Carolina, Chen, Zugen, Nelson, Stanley F, Nusinowitz, Steven, Farber, Deborah B, Gorin, Michael B
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2012
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3459799/ https://www.ncbi.nlm.nih.gov/pubmed/22863181 http://dx.doi.org/10.1186/1471-2350-13-67

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