Targeted Disruption of the Myocilin Gene (Myoc) Suggests that Human Glaucoma-Causing Mutations Are Gain of Function

Glaucoma is a heterogeneous eye disease and a major cause of blindness worldwide. Recently, primary open angle glaucoma (POAG)-associated mutations have been found in the trabecular meshwork inducible glucocorticoid response gene (TIGR), also known as the myocilin gene (MYOC), at the GLC1A locus on...

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Autors principals: Kim, Byong Su, Savinova, Olga V., Reedy, Mark V., Martin, Janice, Lun, Yi, Gan, Lin, Smith, Richard S., Tomarev, Stanislav I., John, Simon W. M., Johnson, Randy L.
Format: Artigo
Idioma:Inglês
Publicat: American Society for Microbiology 2001
Matèries:
Mammalian Genetic Models with Minimal or Complex Phenotypes
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC99941/
https://ncbi.nlm.nih.gov/pubmed/11604506
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1128/MCB.21.22.7707-7713.2001
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