Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration
Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration
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England: BioMed Central Ltd
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Language
English
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Publisher
England: BioMed Central Ltd
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To date, no genetic analysis of inherited retinal disease (IRD) using whole-exome sequencing (WES) has been conducted in a large-scale Korean cohort. The aim of this study was to characterise the genetic profile of IRD patients in Korea using WES.
We performed comprehensive molecular testing in 168 unrelated Korean IRD patients using WES. The po...
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Full title
Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration
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TN_cdi_doaj_primary_oai_doaj_org_article_7adf1e540b444b22bb12bfbba2f03eb1
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_7adf1e540b444b22bb12bfbba2f03eb1
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ISSN
1755-8794
E-ISSN
1755-8794
DOI
10.1186/s12920-021-00874-6
