Next-generation sequencing-based genetic testing and phenotype correlation in retinitis pigmentosa patients from India

PURPOSE: Inherited retinal dystrophies (IRD) are a heterogeneous group of retinal diseases leading to progressive loss of photoreceptors through apoptosis. Retinitis pigmentosa (RP) is considered the most common form of IRD. Panel-based testing in RP has proven effective in identifying the causative...

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Detalles Bibliográficos
Autores principales: Sen, Parveen, Srikrupa, Natarajan, Maitra, Puja, Srilekha, Sundaramurthy, Porkodi, Periyasamy, Gnanasekaran, Harshavardhini, Bhende, Muna, Khetan, Vikas, Mathavan, Sinnakaruppan, Bhende, Pramod, Ratra, Dhanashree, Raman, Rajiv, Rao, Chetan, Sripriya, Sarangapani
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10417947/
https://www.ncbi.nlm.nih.gov/pubmed/37322672
http://dx.doi.org/10.4103/IJO.IJO_2579_22

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10417947/
https://www.ncbi.nlm.nih.gov/pubmed/37322672
http://dx.doi.org/10.4103/IJO.IJO_2579_22

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