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A novel mechanism for variable phenotypic expressivity in Mendelian diseases uncovered by an AU rich element (ARE) creating mutation

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Academic year: 2020

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Figure

Fig. 1 Clinical images and family pedigree of three families with isolated band keratopathy.proband in each family
Fig. 3 ARE-forming mutation of16 h. Cells were lysed and luciferase activity was quantitated as ratio of Nanoluc/Firefly luc intensity
Fig. 4 Effect of SCL4A4 ARE-forming mutation on mRNA decay. aHap-1 fibroblast-like cells were transfected with nanoluciferasereporters fused with WT SLC4A4 3′UTR or the ARE-forming mutant-SLC4A4 3′UTR for 16 h
Fig. 5 RNA-IP for SLC4A4 ARE-forming mutation. HEK 293 cells wereco-transfected with HA-ZFP36 expression vector along with eitherWT SLC4A4 3'UTR or Mut SLC4A4 3'UTR
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