Exome sequencing identifies procollagen-lysine 2-oxoglutarate 5-dioxygenase 2 mutations in primary congenital and juvenile glaucoma

PURPOSE: To report the association of procollagen-lysine 2-oxoglutarate 5-dioxygenase 2 (PLOD2) mutations with bilateral primary congenital glaucoma (PCG) in monozygotic twins and with nondominant juvenile-onset primary open-angle glaucoma (JOAG). METHODS: We utilized family-based whole-exome sequen...

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Detalles Bibliográficos
Autores principales: Gupta, Viney, Somarajan, Bindu I, Kaur, Gagandeep, Gupta, Shikha, Singh, Renu, Pradhan, Dibyabhaba, Singh, Harpreet, Kaur, Punit, Sharma, Anshul, Chawla, Bindia, Pahuja, Anisha, Ramachandran, Rajesh, Sharma, Arundhati
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/PMC8597539/
https://www.ncbi.nlm.nih.gov/pubmed/34571620
http://dx.doi.org/10.4103/ijo.IJO_1750_21

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