About: Quantitative analysis of CAPN3 transcripts in LGMD2A patients: involvement of nonsense-mediated mRNA decay     Goto   Sponge   NotDistinct   Permalink

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  • We performed analysis of the CAPN3 gene in LGMD2A patients at both the mRNA level using reverse transcription-PCR, and at the DNA level using PCR and denaturing high performance liquid chromatography. The relationship observed in 12 patients between the quantity of CAPN3 mRNA, determined using real-time PCR, and the genotype leads us to propose that CAPN3 mRNAs which contain frame-shift mutations are degraded by nonsense-mediated mRNA decay
  • We performed analysis of the CAPN3 gene in LGMD2A patients at both the mRNA level using reverse transcription-PCR, and at the DNA level using PCR and denaturing high performance liquid chromatography. The relationship observed in 12 patients between the quantity of CAPN3 mRNA, determined using real-time PCR, and the genotype leads us to propose that CAPN3 mRNAs which contain frame-shift mutations are degraded by nonsense-mediated mRNA decay (en)
Title
  • Quantitative analysis of CAPN3 transcripts in LGMD2A patients: involvement of nonsense-mediated mRNA decay
  • Quantitative analysis of CAPN3 transcripts in LGMD2A patients: involvement of nonsense-mediated mRNA decay (en)
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  • Quantitative analysis of CAPN3 transcripts in LGMD2A patients: involvement of nonsense-mediated mRNA decay
  • Quantitative analysis of CAPN3 transcripts in LGMD2A patients: involvement of nonsense-mediated mRNA decay (en)
skos:notation
  • RIV/00216224:14110/07:00022278!RIV10-MSM-14110___
http://linked.open...avai/riv/aktivita
http://linked.open...avai/riv/aktivity
  • P(NR8087), Z(MSM0021622415)
http://linked.open...iv/cisloPeriodika
  • 2
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  • 446152
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  • RIV/00216224:14110/07:00022278
http://linked.open...riv/jazykVysledku
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  • LGMD2A; CAPN3; Calpain-3; Real-time RT-PCR; Nonsense-mediated mRNA decay (en)
http://linked.open.../riv/klicoveSlovo
http://linked.open...odStatuVydavatele
  • US - Spojené státy americké
http://linked.open...ontrolniKodProRIV
  • [052551239761]
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  • Neuromuscular Disorders
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  • 17
http://linked.open...iv/tvurceVysledku
  • Fajkusová, Lenka
  • Hermanová, Markéta
  • Sedláčková, Jana
  • Voháňka, Stanislav
  • Zámečník, Josef
  • Fajkus, Jiří
  • Vondráček, Petr
  • Mazanec, Radim
  • Maříková, Taťána
  • Stehlíková, Kristýna
  • Zapletalová, Eva
http://linked.open...n/vavai/riv/zamer
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  • 0960-8966
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  • 14110
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