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Whole exome sequencing analysis identifies novel Stargardt disease-related gene mutations in Chinese...

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Whole exome sequencing analysis identifies novel Stargardt disease-related gene mutations in Chinese Stargardt disease and retinitis pigmentosa patients

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TN_cdi_proquest_miscellaneous_2512333677

Whole exome sequencing analysis identifies novel Stargardt disease-related gene mutations in Chinese Stargardt disease and retinitis pigmentosa patients

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https://collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2512333677

Whole exome sequencing analysis identifies novel Stargardt disease-related gene mutations in Chinese Stargardt disease and retinitis pigmentosa patients

Full title

Whole exome sequencing analysis identifies novel Stargardt disease-related gene mutations in Chinese Stargardt disease and retinitis pigmentosa patients

Publisher

England: Nature Publishing Group

Journal title

Eye (London), 2022, Vol.36 (4), p.749-759

Record Identifier

TN_cdi_proquest_miscellaneous_2512333677

Language

English

Formats

Publication information

Publisher

England: Nature Publishing Group

More information

SCOPE AND CONTENTS

Contents

To delineate the disease-causing mutations of the Stargardt disease-related genes in Chinese patients diagnosed with Stargardt disease or retinitis pigmentosa (RP) by whole exome sequencing analysis.
A total of 123 sporadic RP or Stargardt disease patients and 2 Stargardt disease families were recruited. All sporadic patients and the probands of...

ALTERNATIVE TITLES

Full title

Whole exome sequencing analysis identifies novel Stargardt disease-related gene mutations in Chinese Stargardt disease and retinitis pigmentosa patients

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PRIMARY IDENTIFIERS

Record Identifier

TN_cdi_proquest_miscellaneous_2512333677

Permalink

https://collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2512333677

OTHER IDENTIFIERS

ISSN

0950-222X

E-ISSN

1476-5454

DOI

10.1038/s41433-021-01525-x

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