Journal
BRITISH JOURNAL OF DERMATOLOGY
Volume 187, Issue 6, Pages 1045-1048Publisher
WILEY
DOI: 10.1111/bjd.21832
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Funding
- Human Frontier Science Program [RGY 0071/2014]
- Vlinderkind
- European Research Counsel [STOP-HF (StG)] [715732]
- European Research Council (ERC) [715732] Funding Source: European Research Council (ERC)
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This study suggests that gain-of-function variants in KLHL24 causing EBS and DCM may not only originate in the start-codon, and any nonsense-inducing variant affecting nucleotides c.4_84 is likely to have the same effect on protein level and result in a similar potential lethal phenotype.
This study shows that gain-of-function variants in KLHL24 causing EBS and DCM, do not only originate in the start-codon and suggest that any nonsense-inducing variant affecting nucleotides c.4_84 will likely cause the same effect on protein level and a similar potential lethal phenotype.
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