Publications:

Survey of familial glaucoma shows a high incidence of cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) mutations in non-consanguineous congenital forms in a Spanish population.

Molecular Vision

Millá, Elena E; Mañé, Begoña B; Duch, Susana S; Hernan, Imma I; Borràs, Emma E; Planas, Ester E; Dias, Miguel de Sousa Mde S; Carballo, Miguel M; Gamundi, María José MJ; ,

Publication Date: 2013

Variant appearance in text: MYOC: Tyr479His

PubMed Link: 23922489

Variant Present in the following documents:

• Main text
• mv-v19-1707.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: Tyr479His

PubMed Link: 20668460

Variant Present in the following documents:

• Main text
• nihms-217758.pdf

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Role of MYOC and OPTN sequence variations in Spanish patients with primary open-angle glaucoma.

Molecular Vision

Lopez-Martinez, Francisco F; Lopez-Garrido, Maria-Pilar MP; Sanchez-Sanchez, Francisco F; Campos-Mollo, Ezequiel E; Coca-Prados, Miguel M; Escribano, Julio J

Publication Date: 2007-06-14

Variant appearance in text: MYOC: Tyr479His

PubMed Link: 17615537

Variant Present in the following documents:

• Main text
• mv-v13-862.pdf

View BVdb publication page