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DNAJC17 is localized in nuclear speckles and interacts with splicing machinery components
DNAJC17 is a heat shock protein (HSP40) family member, identified in mouse as susceptibility gene for congenital hypothyroidism. DNAJC17 knockout mouse embryos die prior to implantation. In humans, germline homozygous mutations in DNAJC17 have been found in syndromic retinal dystrophy patients, whil...
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| Veröffentlicht in: | Sci Rep |
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| Hauptverfasser: | , , , , , , , , , , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Nature Publishing Group UK
2018
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5958099/ https://ncbi.nlm.nih.gov/pubmed/29773831 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-018-26093-1 |
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