Signal Peptide Variants in Inherited Retinal Diseases: A Multi-Institutional Case Series

Signal peptide (SP) mutations are an infrequent cause of inherited retinal diseases (IRDs). We report the genes currently associated with an IRD that possess an SP sequence and assess the prevalence of these variants in a multi-institutional retrospective review of clinical genetic testing records....

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Detalles Bibliográficos
Autores principales: Jimenez, Hiram J., Procopio, Rebecca A., Thuma, Tobin B. T., Marra, Molly H., Izquierdo, Natalio, Klufas, Michael A., Nagiel, Aaron, Pennesi, Mark E., Pulido, Jose S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9658040/
https://www.ncbi.nlm.nih.gov/pubmed/36362148
http://dx.doi.org/10.3390/ijms232113361

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9658040/
https://www.ncbi.nlm.nih.gov/pubmed/36362148
http://dx.doi.org/10.3390/ijms232113361

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