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Whole exome sequencing identifies novel USH2A mutations and confirms Usher syndrome 2 diagnosis in C...

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Whole exome sequencing identifies novel USH2A mutations and confirms Usher syndrome 2 diagnosis in Chinese retinitis pigmentosa patients

Record identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6449333

Whole exome sequencing identifies novel USH2A mutations and confirms Usher syndrome 2 diagnosis in Chinese retinitis pigmentosa patients

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https://collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6449333

Whole exome sequencing identifies novel USH2A mutations and confirms Usher syndrome 2 diagnosis in Chinese retinitis pigmentosa patients

Full title

Whole exome sequencing identifies novel USH2A mutations and confirms Usher syndrome 2 diagnosis in Chinese retinitis pigmentosa patients

Publisher

England: Nature Publishing Group

Journal title

Scientific reports, 2019, Vol.9 (1), p.5628-5628

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6449333

Language

English

Formats

Publication information

Publisher

England: Nature Publishing Group

More information

SCOPE AND CONTENTS

Contents

Retinitis pigmentosa (RP) is a common phenotype in multiple inherited retinal dystrophies (IRD). Disease gene identification can assist the clinical diagnosis of IRD patients for better clinical management, treatment and counseling. In this study, we aimed to delineate and characterize the disease-causing mutations in Chinese familial and sporadic...

ALTERNATIVE TITLES

Full title

Whole exome sequencing identifies novel USH2A mutations and confirms Usher syndrome 2 diagnosis in Chinese retinitis pigmentosa patients

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PRIMARY IDENTIFIERS

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6449333

Permalink

https://collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6449333

OTHER IDENTIFIERS

ISSN

2045-2322

E-ISSN

2045-2322

DOI

10.1038/s41598-019-42105-0

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