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Analysis of copy number variation using whole genome exon-focused array CGH in Korean patients with primary congenital glaucoma

PURPOSE: Primary congenital glaucoma (PCG) is an autosomal recessive form of glaucoma that manifests within the first year of life and if left untreated, leads to irreversible blindness. Cytochrome P450 1B1 (CYP1B1) is the major gene known to be associated with PCG. The role of the CYP1B1 gene in di...

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Detalles Bibliográficos
Autores principales: Lee, Ji Hyun, Ki, Chang-Seok, Kim, Hee-Jung, Suh, Wool, Lee, Seung-Tae, Kim, Jong-Won, Kee, Changwon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3250374/
https://www.ncbi.nlm.nih.gov/pubmed/22219654