Exome Sequence Analysis of 14 Families With High Myopia

PURPOSE: To identify causal gene mutations in 14 families with autosomal dominant (AD) high myopia using exome sequencing. METHODS: Select individuals from 14 large Caucasian families with high myopia were exome sequenced. Gene variants were filtered to identify potential pathogenic changes. Sanger...

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Bibliografische gegevens
Gepubliceerd in:Invest Ophthalmol Vis Sci
Hoofdauteurs: Kloss, Bethany A., Tompson, Stuart W., Whisenhunt, Kristina N., Quow, Krystina L., Huang, Samuel J., Pavelec, Derek M., Rosenberg, Thomas, Young, Terri L.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: The Association for Research in Vision and Ophthalmology 2017
Onderwerpen:
Genetics
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5382835/
https://ncbi.nlm.nih.gov/pubmed/28384719
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.16-20883
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