Common variants at 9p21 and 8q22 are associated with increased susceptibility to optic nerve degeneration in glaucoma (Q34263078)

1 August 2017

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Common variants at 9p21 and 8q22 are associated with increased susceptibility to optic nerve degeneration in glaucoma (English)

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Margaret A. Pericak-Vance

1 August 2017

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19

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48

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Joseph Caprioli

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1 August 2017

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Robert N Weinreb

42

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1 August 2017

39

Gadi Wollstein

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1 August 2017

50

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1 August 2017

45

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1

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5

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1 August 2017

6

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7

Wael Abdrabou

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1 August 2017

11

Donald L Budenz

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1 August 2017

15

Elizabeth Delbono

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1 August 2017

18

Douglas Gaasterland

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1 August 2017

22

Paul R Lichter

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23

Stephanie Loomis

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26

Cathy McCarty

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1 August 2017

28

Sayoko E Moroi

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1 August 2017

30

Anthony Realini

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34

Kuldev Singh

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35

Joshua D Stein

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Sachiko Yoneyama

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47

Julia E Richards

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1 August 2017

49

Louis R Pasquale

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1 August 2017

27

Daniel Mirel

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1 August 2017

Michael A Hauser

3

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1 August 2017

Jae H Kang

4

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1 August 2017

Dan Y Wang

9

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1 August 2017

Wendy Brodeur

10

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1 August 2017

Andrew Crenshaw

13

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Kristy Crooks

14

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1 August 2017

Kimberly F Doheny

16

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1 August 2017

David S Friedman

17

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1 August 2017

Cathy Laurie

20

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1 August 2017

Richard K Lee

21

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1 August 2017

Yutao Liu

24

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1 August 2017

Felipe A Medeiros

25

1 reference

1 August 2017

David C Musch

29

1 reference

1 August 2017

Kathleen Scott

33

1 reference

1 August 2017

Edward H Trager

36

1 reference

1 August 2017

Paul Vanveldhuisen

37

1 reference

1 August 2017

Douglas Vollrath

38

1 reference

1 August 2017

Kang Zhang

41

1 reference

1 August 2017

Jason Ernst

43

1 reference

1 August 2017

26 April 2012

1 reference

1 August 2017

1 reference

1 August 2017

8

1 reference

1 August 2017

e1002654

1 reference

1 August 2017

4

1 reference

Creative Commons Attribution 4.0 International

1 August 2017

start time

26 April 2012

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

The NEIGHBOR consortium primary open-angle glaucoma genome-wide association study: rationale, study design, and clinical variables

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343074

Retinal gene expression changes related to IOP exposure and axonal loss in DBA/2J mice

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343074

Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma in Caucasians from the USA

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343074

Genome-Wide linkage scan for primary open angle glaucoma: Influences of ancestry and age at diagnosis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343074

Ocular perfusion pressure and glaucoma

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343074

Low-density lipoprotein receptor-related protein is decreased in optic neuropathy of Alzheimer disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343074

Primary open-angle glaucoma genes.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343074

Transforming growth factor-beta induces extracellular matrix protein cross-linking lysyl oxidase (LOX) genes in human trabecular meshwork cells

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343074

Copy number variations on chromosome 12q14 in patients with normal tension glaucoma

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343074

Common genetic variants associated with open-angle glaucoma

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343074

Genetic variants associated with optic nerve vertical cup-to-disc ratio are risk factors for primary open angle glaucoma in a US Caucasian population

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343074

Molecular clustering identifies complement and endothelin induction as early events in a mouse model of glaucoma

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343074

Mutations in zebrafish lrp2 result in adult-onset ocular pathogenesis that models myopia and other risk factors for glaucoma

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343074

9p21 DNA variants associated with coronary artery disease impair interferon-γ signalling response

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343074

Genetic analysis of biological pathway data through genomic randomization

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343074

LOXL1 promoter haplotypes are associated with exfoliation syndrome in a U.S. Caucasian population

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343074

Distribution of COL8A2 and COL8A1 gene variants in Caucasian primary open angle glaucoma patients with thin central corneal thickness.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343074

MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343074

Using the Utah Population Database to assess familial risk of primary open angle glaucoma

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343074

Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343074

Glaucoma: genes, phenotypes, and new directions for therapy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343074

Feasibility of High-Throughput Genome-Wide Genotyping using DNA from Stored Buccal Cell Samples

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343074

African Descent and Glaucoma Evaluation Study (ADAGES): II. Ancestry differences in optic disc, retinal nerve fiber layer, and macular structure in healthy subjects

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343074

Genome-wide association identifies ATOH7 as a major gene determining human optic disc size

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343074

Chromosome 9p21 SNPs Associated with Multiple Disease Phenotypes Correlate with ANRIL Expression

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343074

Modulation of factors affecting optic nerve head astrocyte migration

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343074

Genome-wide association study of normal tension glaucoma: common variants in SRBD1 and ELOVL5 contribute to disease susceptibility

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343074

AQP1 and SLC4A10 as candidate genes for primary open-angle glaucoma.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343074

The Gene, Environment Association Studies consortium (GENEVA): maximizing the knowledge obtained from GWAS by collaboration across studies of multiple conditions

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343074

SCAN: SNP and copy number annotation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343074

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343074

Null mutations in LTBP2 cause primary congenital glaucoma

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343074

Global mapping of protein-DNA interactions in vivo by digital genomic footprinting

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343074

Bone morphogenetic protein 4 inhibits TGF-beta2 stimulation of extracellular matrix proteins in optic nerve head cells: role of gremlin in ECM modulation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343074

Cerebrospinal fluid pressure is decreased in primary open-angle glaucoma

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343074

Lack of Association between LOXL1 Variants and Primary Open- Angle Glaucoma in Three Different Populations

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343074

PLINK: a tool set for whole-genome association and population-based linkage analyses

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343074

Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343074

Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343074

Cell cycle molecules define a pathway required for neuron death in development and disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343074

28 July 2018

Whole-genome genotyping

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343074

The number of people with glaucoma worldwide in 2010 and 2020

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343074

Validation of a predictive model to estimate the risk of conversion from ocular hypertension to glaucoma

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343074

Transforming growth factor-beta-regulated gene transcription and protein expression in human GFAP-negative lamina cribrosa cells.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343074

Tsc-22 enhances TGF-beta signaling by associating with Smad4 and induces erythroid cell differentiation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343074

ST7 is a novel low-density lipoprotein receptor-related protein (LRP) with a cytoplasmic tail that interacts with proteins related to signal transduction pathways

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343074

Posttranscriptional regulation of TSC-22 (TGF-beta-stimulated clone-22) gene by TGF-beta 1.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343074

The Friend of GATA proteins U-shaped, FOG-1, and FOG-2 function as negative regulators of blood, heart, and eye development in Drosophila

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343074

Natural history of normal-tension glaucoma

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343074

A third locus (GLC1D) for adult-onset primary open-angle glaucoma maps to the 8q23 region

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343074

p15INK4B is a potential effector of TGF-beta-induced cell cycle arrest

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343074

Intraocular pressure: modulation as treatment for glaucoma.

28 July 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002654

Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002654

METAL: fast and efficient meta-analysis of genomewide association scans

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002654

A genome-wide association study of optic disc parameters

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002654

Genome-wide association studies in Asians confirm the involvement of ATOH7 and TGFBR3, and further identify CARD10 as a novel locus influencing optic disc area

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002654

Linkage and association analyses of glaucoma related traits in a large pedigree from a Dutch genetically isolated population

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002654

Expression of linear and novel circular forms of an INK4/ARF-associated non-coding RNA correlates with atherosclerosis risk.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002654

Micro RNA-125b (miRNA-125b) function in astrogliosis and glial cell proliferation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002654

Retinal gene expression after central retinal artery ligation: effects of ischemia and reperfusion

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002654

Global gene expression changes in rat retinal ganglion cells in experimental glaucoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002654

Global changes in optic nerve head gene expression after exposure to elevated intraocular pressure in a rat glaucoma model

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002654

Elasticity-dependent modulation of TGF-β responses in human trabecular meshwork cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002654

Alternative splicing of neuroligin and its protein distribution in the outer plexiform layer of the chicken retina.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002654

A genetic epidemiologic study of candidate genes involved in the optic nerve head morphology

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343074

Cerebrospinal fluid exchange in the optic nerve in normal-tension glaucoma.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343074

Immunolocalization of TGF-beta 1, TGF-beta 2, and TGF-beta 3 in the anterior segment of the human eye

28 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22570617

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Clinical features and course of patients with glaucoma with the E50K mutation in the optineurin gene

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22570617

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PGEN.1002654

1 reference

1 August 2017

1 reference

1 August 2017

1 reference