Identification of Deep-Intronic Splice Mutations in a Large Cohort of Patients With Inherited Retinal Diseases

High throughput sequencing technologies have revolutionized the identification of mutations responsible for a diverse set of Mendelian disorders, including inherited retinal disorders (IRDs). However, the causal mutations remain elusive for a significant proportion of patients. This may be partially...

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Detalles Bibliográficos
Autores principales: Qian, Xinye, Wang, Jun, Wang, Meng, Igelman, Austin D., Jones, Kaylie D., Li, Yumei, Wang, Keqing, Goetz, Kerry E., Birch, David G., Yang, Paul, Pennesi, Mark E., Chen, Rui
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7960924/
https://www.ncbi.nlm.nih.gov/pubmed/33737949
http://dx.doi.org/10.3389/fgene.2021.647400

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7960924/
https://www.ncbi.nlm.nih.gov/pubmed/33737949
http://dx.doi.org/10.3389/fgene.2021.647400

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