Comparative analysis of SEC61A1 mutant R236C in two patient-derived cellular platforms
Abstract SEC61A1 encodes a central protein of the mammalian translocon and dysfunction results in severe disease. Recently, mutation R236C was identified in patients having autosomal dominant polycystic liver disease (ADPLD). The molecular phenotype of R236C was assessed in two cellular platforms. C...
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| Hauptverfasser: | , , , , , , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Nature Portfolio
2024-04-01
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| Schriftenreihe: | Scientific Reports |
| Online-Zugang: | https://doi.org/10.1038/s41598-024-59033-3 |
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