Next generation sequencing identifies novel disease-associated BEST1 mutations in Bestrophinopathy patients

Bestinopathies are a spectrum of retinal disorders associated with mutations in BEST1 including autosomal recessive bestrophinopathy (ARB) and autosomal dominant Best vitelliform macular dystrophy (BVMD). We applied whole-exome sequencing on four unrelated Indian families comprising eight affected a...

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Detalles Bibliográficos
Autores principales: Nguyen, Thong T., Poornachandra, B., Verma, Anshuman, Mehta, Ruchir A., Phalke, Sameer, Battu, Rajani, Ramprasad, Vedam L., Peterson, Andrew S., Ghosh, Arkasubhra, Seshagiri, Somasekar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6033935/
https://www.ncbi.nlm.nih.gov/pubmed/29976937
http://dx.doi.org/10.1038/s41598-018-27951-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6033935/
https://www.ncbi.nlm.nih.gov/pubmed/29976937
http://dx.doi.org/10.1038/s41598-018-27951-8

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