Letter to the Editor: Does the HSD17B13 rs72613567 Splice Variant Actually Yield a New Type of Alternative Splicing?
- PMID: 31755564
- DOI: 10.1002/hep.31044
Letter to the Editor: Does the HSD17B13 rs72613567 Splice Variant Actually Yield a New Type of Alternative Splicing?
Comment in
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REPLY.Hepatology. 2020 May;71(5):1886-1887. doi: 10.1002/hep.31043. Hepatology. 2020. PMID: 31758706 No abstract available.
Comment on
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17-Beta Hydroxysteroid Dehydrogenase 13 Is a Hepatic Retinol Dehydrogenase Associated With Histological Features of Nonalcoholic Fatty Liver Disease.Hepatology. 2019 Apr;69(4):1504-1519. doi: 10.1002/hep.30350. Epub 2019 Mar 5. Hepatology. 2019. PMID: 30415504 Free PMC article.
References
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- Ma Y, Belyaeva OV, Brown PM, Fujita K, Valles K, Karki S, et al. 17-Beta hydroxysteroid dehydrogenase 13 is a hepatic retinol dehydrogenase associated with histological features of non-alcoholic fatty liver disease. Hepatology 2019;69:1504-1519.
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- Anna A, Monika G. Splicing mutations in human genetic disorders: examples, detection, and confirmation. Appl Genet 2018;59:253-268.
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- Roca X, Akerman M, Gaus H, Berdeja A, Bennett CF, Krainer AR. Widespread recognition of 5′ splice sites by noncanonical base-pairing to U1 snRNA involving bulged nucleotides. Genes Dev 2012;6:1098-1109.
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- Amrani N, Dong S, He F, Ganesan R, Ghosh S, Kervestin S, et al. Aberrant termination triggers nonsense-mediated mRNA decay. Biochem Soc Trans 2006;34:39-42.
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- Abul-Husn NS, Cheng X, Li AH, Xin Y, Schurmann C, Stevis P, et al. A protein-truncating HSD17B13 variant and protection from chronic liver disease. N Engl J Med 2018;378:1096-1106.
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