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Human Cataract Mutations in EPHA2 SAM Domain Alter Receptor Stability and Function
The cellular and molecular mechanisms underlying the pathogenesis of cataracts leading to visual impairment remain poorly understood. In recent studies, several mutations in the cytoplasmic sterile-α-motif (SAM) domain of human EPHA2 on chromosome 1p36 have been associated with hereditary cataracts...
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| Asıl Yazarlar: | , , , , , |
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| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Public Library of Science
2012
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3343017/ https://ncbi.nlm.nih.gov/pubmed/22570727 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0036564 |
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