Publications:

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Comprehensive sequencing of the myocilin gene in a selected cohort of severe primary open-angle glaucoma patients.

Scientific Reports

O'Gorman, Luke L; Cree, Angela J AJ; Ward, Daniel D; Griffiths, Helen L HL; Sood, Roshan R; Denniston, Alastair K AK; Self, Jay E JE; Ennis, Sarah S; Lotery, Andrew J AJ; Gibson, Jane J

Publication Date: 2019-02-28

Variant appearance in text: N/A

PubMed Link: 30816137

Variant Present in the following documents:

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Low prevalence of myocilin mutations in an African American population with primary open-angle glaucoma.

Molecular Vision

Liu, Wenjing W; Liu, Yutao Y; Challa, Pratap P; Herndon, Leon W LW; Wiggs, Janey L JL; Girkin, Christopher A CA; Allingham, R Rand RR; Hauser, Michael A MA

Publication Date: 2012

Variant appearance in text: MYOC: Gly122Gly

PubMed Link: 22933836

Variant Present in the following documents:

• Main text
• mv-v18-2241.pdf

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Myocilin and optineurin coding variants in Hispanics of Mexican descent with POAG.

Journal Of Human Genetics

McDonald, Kristin K KK; Abramson, Karen K; Beltran, Marco A MA; Ramirez, Maria G MG; Alvarez, Miguel M; Ventura, Alice A; Santiago-Turla, Cecilia C; Schmidt, Silke S; Hauser, Michael A MA; Allingham, R Rand RR

Publication Date: 2010-10

Variant appearance in text: MYOC: G122G

PubMed Link: 20668460

Variant Present in the following documents:

• Main text
• nihms-217758.pdf

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Screening of CYP1B1 and MYOC in Moroccan families with primary congenital glaucoma: three novel mutations in CYP1B1.

Molecular Vision

Hilal, Latifa L; Boutayeb, Soraya S; Serrou, Aziza A; Refass-Buret, Loubna L; Shisseh, Hafsa H; Bencherifa, Fatiha F; El Mzibri, Mohammed M; Benazzouz, Bouchra B; Berraho, Amina A

Publication Date: 2010-07-02

Variant appearance in text: MYOC: G122G

PubMed Link: 20664688

Variant Present in the following documents:

• Main text

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Role of CYP1B1, MYOC, OPTN, and OPTC genes in adult-onset primary open-angle glaucoma: predominance of CYP1B1 mutations in Indian patients.

Molecular Vision

Kumar, Arun A; Basavaraj, Manjunath G MG; Gupta, Santosh K SK; Qamar, Imteyaz I; Ali, Abdullah Mahmood AM; Bajaj, Vineeta V; Ramesh, T K TK; Prakash, D Ravi DR; Shetty, Jyoti S JS; Dorairaj, Syril K SK

Publication Date: 2007-04-30

Variant appearance in text: MYOC: 366C>T

PubMed Link: 17563717

Variant Present in the following documents:

• Main text

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

The British Journal Of Ophthalmology

Cobb, C J CJ; Scott, G G; Swingler, R J RJ; Wilson, S S; Ellis, J J; MacEwen, C J CJ; McLean, W H I WH

Publication Date: 2002-02

Variant appearance in text: N/A

PubMed Link: 11815346

Variant Present in the following documents:

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