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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Autors principals:	Viney Gupta, Bindu I Somarajan, Gagandeep Kaur, Shikha Gupta, Renu Singh, Dibyabhaba Pradhan, Harpreet Singh, Punit Kaur, Anshul Sharma, Bindia Chawla, Anisha Pahuja, Rajesh Ramachandran, Arundhati Sharma
Format:	Artigo
Idioma:	Inglês
Publicat:	Wolters Kluwer Medknow Publications 2021-01-01
Col·lecció:	Indian Journal of Ophthalmology
Matèries:	congenital glaucoma glaucoma juvenile glaucoma plod2
Accés en línia:	http://www.ijo.in/article.asp?issn=0301-4738;year=2021;volume=69;issue=10;spage=2710;epage=2716;aulast=
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