Whole-exome sequencing identifies multiple pathogenic variants in a large South Indian family with primary open-angle glaucoma

PURPOSE: To identify the pathogenic variants associated with primary open-angle glaucoma (POAG) using whole-exome sequencing (WES) data of a large South Indian family. METHODS: We recruited a large five-generation South Indian family (n = 84) with a positive family history of POAG (n = 19). All stud...

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Detalles Bibliográficos
Autores principales: Shah, Mohd Hussain, Kumaran, Manojkumar, Chermakani, Prakash, Kader, Mohideen Abdul, Ramakrishnan, R, Krishnadas, Subbiah R, Devarajan, Bharanidharan, Sundaresan, Periasamy
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2021
Materias:
Special Focus, Glaucoma, Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8544095/
https://www.ncbi.nlm.nih.gov/pubmed/34427245
http://dx.doi.org/10.4103/ijo.IJO_3301_20

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8544095/
https://www.ncbi.nlm.nih.gov/pubmed/34427245
http://dx.doi.org/10.4103/ijo.IJO_3301_20

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