Low prevalence of MYOC mutations in UK primary open-angle glaucoma patients limits the utility of genetic testing (Q57149241)

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1 January 2020

title

Low prevalence of MYOC mutations in UK primary open-angle glaucoma patients limits the utility of genetic testing (English)

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1 January 2020

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7

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author name string

Laura Baumber

2

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1 January 2020

Alison Hill

3

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1 January 2020

Kai Goh

5

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1 January 2020

Wojciech Karwatowski

6

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1 January 2020

Micheala A Aldred

1

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Edward C Schwalbe

4

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publication date

25 August 2004

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1 January 2020

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volume

115

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issue

5

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page(s)

428-431

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https://scigraph.springernature.com/pub.10.1007/s00439-004-1171-1

1 January 2020

exact match

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cites work

Founder TIGR/myocilin mutations for glaucoma in the Québec population.

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12 December 2020

Lack of association of mutations in optineurin with disease in patients with adult-onset primary open-angle glaucoma

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12 December 2020

Screening siblings for glaucoma in the UK.

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12 December 2020

Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucoma

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12 December 2020

Adult-onset primary open-angle glaucoma caused by mutations in optineurin

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12 December 2020

Identification of a gene that causes primary open angle glaucoma.

1 reference

12 December 2020

MYOC mutation frequency in primary open-angle glaucoma patients from Western Switzerland.

1 reference

12 December 2020

Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A)

1 reference

12 December 2020

Mutations in the TIGR gene in familial primary open-angle glaucoma in Japan

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12 December 2020

The HUGO Gene Nomenclature Committee (HGNC).

1 reference

12 December 2020

Analysis of myocilin mutations in 1703 glaucoma patients from five different populations

1 reference

12 December 2020

Recurrent mutations in a single exon encoding the evolutionarily conserved olfactomedin-homology domain of TIGR in familial open-angle glaucoma

1 reference

12 December 2020

Myocilin mutations in a population-based sample of cases with open-angle glaucoma: the Rotterdam Study.

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12 December 2020

Glaucoma awareness and screening uptake in relatives of people with glaucoma.

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12 December 2020

Rapid mutation detection by the transgenomic wave analyser DHPLC identifies MYOC mutations in patients with ocular hypertension and/or open angle glaucoma

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12 December 2020

Primary open angle glaucoma is associated with a specific p53 gene haplotype

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12 December 2020

Prevalence of optineurin sequence variants in adult primary open angle glaucoma: implications for diagnostic testing

1 reference

12 December 2020

10.1007/S00439-004-1171-1

Identifiers

DOI

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