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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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| Главные авторы: | , , , , , |
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| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Public Library of Science
2012
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3530494/ https://ncbi.nlm.nih.gov/pubmed/23300808 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0052894 |
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