Effective smMIPs-Based Sequencing of Maculopathy-Associated Genes in Stargardt Disease Cases and Allied Maculopathies from the UK

Macular dystrophies are a group of individually rare but collectively common inherited retinal dystrophies characterised by central vision loss and loss of visual acuity. Single molecule Molecular Inversion Probes (smMIPs) have proved effective in identifying genetic variants causing macular dystrop...

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Detalles Bibliográficos
Autores principales: Mc Clinton, Benjamin, Corradi, Zelia, McKibbin, Martin, Panneman, Daan M., Roosing, Susanne, Boonen, Erica G. M., Ali, Manir, Watson, Christopher M., Steel, David H., Cremers, Frans P. M., Inglehearn, Chris F., Hitti-Malin, Rebekkah J., Toomes, Carmel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9859292/
https://www.ncbi.nlm.nih.gov/pubmed/36672932
http://dx.doi.org/10.3390/genes14010191

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9859292/
https://www.ncbi.nlm.nih.gov/pubmed/36672932
http://dx.doi.org/10.3390/genes14010191

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