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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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Main Authors: Lee, Ji Hyun, Ki, Chang-Seok, Kim, Hee-Jung, Suh, Wool, Lee, Seung-Tae, Kim, Jong-Won, Kee, Changwon
格式: Artigo
語言:Inglês
出版: Molecular Vision 2011
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC3250374/
https://ncbi.nlm.nih.gov/pubmed/22219654
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