Cataracts and Microphthalmia Caused by a Gja8 Mutation in Extracellular Loop 2

The mouse semi-dominant Nm2249 mutation displays variable cataracts in heterozygous mice and smaller lenses with severe cataracts in homozygous mice. This mutation is caused by a Gja8(R205G) point mutation in the second extracellular loop of the Cx50 (or α8 connexin) protein. Immunohistological data...

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Detalles Bibliográficos
Autores principales: Xia, Chun-hong, Chang, Bo, DeRosa, Adam M., Cheng, Catherine, White, Thomas W., Gong, Xiaohua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3530494/
https://www.ncbi.nlm.nih.gov/pubmed/23300808
http://dx.doi.org/10.1371/journal.pone.0052894

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3530494/
https://www.ncbi.nlm.nih.gov/pubmed/23300808
http://dx.doi.org/10.1371/journal.pone.0052894

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