Recurrent Myocilin Asn480Lys Glaucoma Causative Mutation Arises De Novo in a Family of Andean Descent-Reference-Cited by-同舟云学术

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Recurrent Myocilin Asn480Lys Glaucoma Causative Mutation Arises De Novo in a Family of Andean Descent

Published:2008-01 Issue:1 Volume:17 Page:67-72
ISSN:1057-0829
Container-title:Journal of Glaucoma
language:en
Short-container-title:Journal of Glaucoma

Author:

Guevara-Fujita Maria Luisa,Perez-Grossmann Rodolfo A.,Estrada-Cuzcano Alejandro,Pawar Hemant,Vargas Enrique,Richards Julia E.,Fujita Ricardo

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Ophthalmology

Reference26 articles.

1. The number of people with glaucoma worldwide in 2010 and 2020

2. Genetic linkage of familial open angle glaucoma to chromosome 1q21–q31

3. The genetic loci of open-angle glaucoma

4. Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1

Cited by 8 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Genetics and Glaucoma: the state of the art;Frontiers in Medicine;2023-12-12

2. Myocilin Mutation N480K Leads to Early Onset Juvenile and Adult-onset Primary Open Angle Glaucoma in Six Generations of a Family;Journal of Glaucoma;2023-08-07

3. Primary Open-Angle Glaucoma due to Mutations in the MYOC Gene;Czech and Slovak Ophthalmology;2022-06-27

4. Age at Glaucoma Diagnosis in Germline Myocilin Mutation Patients: Associations with Polymorphisms in Protein Stabilities;Genes;2021-11-16

5. Common and rare myocilin variants: Predicting glaucoma pathogenicity based on genetics, clinical, and laboratory misfolding data;Human Mutation;2021-06-24

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