Exome Sequencing in a Swiss Childhood Glaucoma Cohort Reveals CYP1B1 and FOXC1 Variants as Most Frequent Causes

PURPOSE: The aim of this study was to investigate the molecular basis of childhood glaucoma in Switzerland to recommend future targeted genetic analysis in the Swiss population. METHODS: Whole-exome sequencing and copy number variation (CNV) analysis was performed in a Swiss cohort of 18 patients fr...

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Detalhes bibliográficos
Publicado no:Transl Vis Sci Technol
Main Authors: Lang, Elena, Koller, Samuel, Bähr, Luzy, Töteberg-Harms, Marc, Atac, David, Roulez, Françoise, Bahr, Angela, Steindl, Katharina, Feil, Silke, Berger, Wolfgang, Gerth-Kahlert, Christina
Formato: Artigo
Idioma:Inglês
Publicado em: The Association for Research in Vision and Ophthalmology 2020
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7414719/
https://ncbi.nlm.nih.gov/pubmed/32832252
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/tvst.9.7.47
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