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Functional Analysis of HSF4 Mutations Found in Patients With Autosomal Recessive Congenital Cataracts
PURPOSE. The goal of this study was to functionally evaluate three previously uncharacterized heat shock factor protein 4 (HSF4) mutations (c.595_599delGGGCC, c.1213C>T, c.1327+4A>G) encoding mutant HSF4 proteins (G199EfsX15, R405X, and M419GfsX29) with missing C-terminal ends. These HSF4 muta...
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| Main Authors: | , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
The Association for Research in Vision and Ophthalmology
2013
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3796937/ https://ncbi.nlm.nih.gov/pubmed/24045990 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.13-12283 |
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