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1دورية أكاديمية
المؤلفون: Franziska Alfen, Elena Putscher, Michael Hecker, Uwe Klaus Zettl, Andreas Hermann, Jan Lukas
المصدر: International Journal of Molecular Sciences, Vol 23, Iss 23, p 15261 (2022)
مصطلحات موضوعية: missense mutation, alternative splicing, α-galactosidase A, exon skipping, intron inclusion, pharmacological chaperone, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
العلاقة: https://www.mdpi.com/1422-0067/23/23/15261Test; https://doaj.org/toc/1661-6596Test; https://doaj.org/toc/1422-0067Test
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2دورية أكاديمية
المؤلفون: Alfen, Franziska, Putscher, Elena, Hecker, Michael, Zettl, Uwe Klaus, Hermann, Andreas, Lukas, Jan
المصدر: International journal of molecular sciences 23(23), 15261 (2022). doi:10.3390/ijms232315261
مصطلحات موضوعية: info:eu-repo/classification/ddc/540, Humans, Fabry Disease: genetics, RNA Precursors: genetics, RNA Splicing: genetics, RNA Splice Sites: genetics, Exons, Alternative Splicing, Introns: genetics, Mutation, α-galactosidase A, exon skipping, intron inclusion, missense mutation, pharmacological chaperone, RNA Precursors, RNA Splice Sites
جغرافية الموضوع: DE
العلاقة: info:eu-repo/semantics/altIdentifier/issn/1661-6596; info:eu-repo/semantics/altIdentifier/pmid/pmid:36499585; info:eu-repo/semantics/altIdentifier/issn/1422-0067; https://pub.dzne.de/record/169143Test; https://pub.dzne.de/search?p=id:%22DZNE-2023-00022%22Test
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3دورية أكاديمية
المؤلفون: Patrícia Varela, Myrtes Martins Caldas, João Bosco Pesquero
المصدر: Frontiers in Genetics, Vol 10 (2019)
مصطلحات موضوعية: Fabry disease, GLA gene, intron inclusion, splice site mutation, α-galactosidase A, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/article/10.3389/fgene.2019.00783/fullTest; https://doaj.org/toc/1664-8021Test
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4
المؤلفون: Scofield, Douglas, Hong, Xin, Lynch, Michael
المصدر: Molecular biology and evolution. 24(4):896-899
مصطلحات موضوعية: intron, nonsense-mediated decay, 3′ UTR, 55-bp rule, premature termination codon, intron inclusion
وصف الملف: print
الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-208479Test
https://doi.org/10.1093/molbev/msm010Test -
5مورد إلكتروني
مصطلحات الفهرس: intron, nonsense-mediated decay, 3′ UTR, 55-bp rule, premature termination codon, intron inclusion, Genetics, Genetik, Article in journal, info:eu-repo/semantics/article, text
URL:
http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-208479Test
Molecular biology and evolution, 0737-4038, 2007, 24:4, s. 896-899