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The diagnostic application of targeted re-sequencing in Korean patients with retinitis pigmentosa

The diagnostic application of targeted re-sequencing in Korean patients with retinitis pigmentosa

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4496857

The diagnostic application of targeted re-sequencing in Korean patients with retinitis pigmentosa

About this item

Full title

The diagnostic application of targeted re-sequencing in Korean patients with retinitis pigmentosa

Publisher

England: BioMed Central Ltd

Journal title

BMC genomics, 2015-07, Vol.16 (1), p.515-515, Article 515

Language

English

Formats

Publication information

Publisher

England: BioMed Central Ltd

More information

Scope and Contents

Contents

Identification of the causative genes of retinitis pigmentosa (RP) is important for the clinical care of patients with RP. However, a comprehensive genetic study has not been performed in Korean RP patients. Moreover, the genetic heterogeneity found in sensorineural genetic disorders makes identification of pathogenic mutations challenging. Therefo...

Alternative Titles

Full title

The diagnostic application of targeted re-sequencing in Korean patients with retinitis pigmentosa

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4496857

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4496857

Other Identifiers

ISSN

1471-2164

E-ISSN

1471-2164

DOI

10.1186/s12864-015-1723-x

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