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Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients

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Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2243502745

Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients

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England: BMJ Publishing Group LTD

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BackgroundThe genetic profile of retinitis pigmentosa (RP) in East Asian populations has not been well characterised. Therefore, we conducted a large-scale sequencing study to investigate the genes and variants causing RP in a Japanese population.MethodsA total of 1209 Japanese patients diagnosed with typical RP were enrolled. We performed deep res...

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Full title

Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients

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Record Identifier

TN_cdi_proquest_miscellaneous_2243502745

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2243502745

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ISSN

0022-2593

E-ISSN

1468-6244

DOI

10.1136/jmedgenet-2018-105691

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