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Detection of mutations in MYOC, OPTN, NTF4, WDR36 and CYP1B1 in Chinese juvenile onset open-angle gl...

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Record title

Detection of mutations in MYOC, OPTN, NTF4, WDR36 and CYP1B1 in Chinese juvenile onset open-angle glaucoma using exome sequencing

Record identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5852028

Detection of mutations in MYOC, OPTN, NTF4, WDR36 and CYP1B1 in Chinese juvenile onset open-angle glaucoma using exome sequencing

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https://collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5852028

Detection of mutations in MYOC, OPTN, NTF4, WDR36 and CYP1B1 in Chinese juvenile onset open-angle glaucoma using exome sequencing

Full title

Detection of mutations in MYOC, OPTN, NTF4, WDR36 and CYP1B1 in Chinese juvenile onset open-angle glaucoma using exome sequencing

Publisher

England: Nature Publishing Group

Journal title

Scientific reports, 2018, Vol.8 (1), p.4498-8

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5852028

Language

English

Formats

Publication information

Publisher

England: Nature Publishing Group

More information

SCOPE AND CONTENTS

Contents

Juvenile onset open-angle glaucoma (JOAG) affects patients before 40 years of age, causing high intraocular pressure and severe optic nerve damage. To expand the mutation spectrum of the causative genes in JOAG, with a view to identify novel disease-causing mutations, we investigated MYOC, OPTN, NTF4, WDR36 and CYP1B1 in a cohort of 67 unrelated Ch...

ALTERNATIVE TITLES

Full title

Detection of mutations in MYOC, OPTN, NTF4, WDR36 and CYP1B1 in Chinese juvenile onset open-angle glaucoma using exome sequencing

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PRIMARY IDENTIFIERS

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5852028

Permalink

https://collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5852028

OTHER IDENTIFIERS

ISSN

2045-2322

E-ISSN

2045-2322

DOI

10.1038/s41598-018-22337-2

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