The Loss of Vacuolar Protein Sorting 11 (vps11) Causes Retinal Pathogenesis in a Vertebrate Model of Syndromic Albinism

PURPOSE. To establish the zebrafish platinum mutant as a model for studying vision defects caused by syndromic albinism diseases such as Chediak-Higashi syndrome, Griscelli syndrome, and Hermansky-Pudlak syndrome (HPS). METHODS. Bulked segregant analysis and candidate gene sequencing revealed that t...

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Autori principali: Thomas, Jennifer L., Vihtelic, Thomas S., denDekker, Aaron D., Willer, Gregory, Luo, Xixia, Murphy, Taylor R., Gregg, Ronald G., Hyde, David R., Thummel, Ryan
Natura: Artigo
Lingua:Inglês
Pubblicazione: Association for Research in Vision and Ophthalmology, Inc. 2011
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3109019/
https://ncbi.nlm.nih.gov/pubmed/21330665
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.10-5957
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