| STEHLÍKOVÁ, Kristýna, Eva ZAPLETALOVÁ, Jana SEDLÁČKOVÁ, Markéta HERMANOVÁ, Petr VONDRÁČEK, Taťána MAŘÍKOVÁ, Radim MAZANEC, Josef ZÁMEČNÍK, Stanislav VOHÁŇKA, Jiří FAJKUS a Lenka FAJKUSOVÁ. Quantitative analysis of CAPN3 transcripts in LGMD2A patients: involvement of nonsense-mediated mRNA decay. Neuromuscular Disorders. USA: Pergamon-Elsevier Science Ltd, 2007, roč. 17, č. 2, s. 143-147. ISSN 0960-8966. |
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@article{720481,
author = {Stehlíková, Kristýna and Zapletalová, Eva and Sedláčková, Jana and Hermanová, Markéta and Vondráček, Petr and Maříková, Taťána and Mazanec, Radim and Zámečník, Josef and Voháňka, Stanislav and Fajkus, Jiří and Fajkusová, Lenka},
article_location = {USA},
article_number = {2},
keywords = {LGMD2A; CAPN3; Calpain-3; Real-time RT-PCR; Nonsense-mediated mRNA decay},
language = {eng},
issn = {0960-8966},
journal = {Neuromuscular Disorders},
title = {Quantitative analysis of CAPN3 transcripts in LGMD2A patients: involvement of nonsense-mediated mRNA decay},
volume = {17},
year = {2007}
}
TY - JOUR
ID - 720481
AU - Stehlíková, Kristýna - Zapletalová, Eva - Sedláčková, Jana - Hermanová, Markéta - Vondráček, Petr - Maříková, Taťána - Mazanec, Radim - Zámečník, Josef - Voháňka, Stanislav - Fajkus, Jiří - Fajkusová, Lenka
PY - 2007
TI - Quantitative analysis of CAPN3 transcripts in LGMD2A patients: involvement of nonsense-mediated mRNA decay
JF - Neuromuscular Disorders
VL - 17
IS - 2
SP - 143
EP - 143
PB - Pergamon-Elsevier Science Ltd
SN - 09608966
KW - LGMD2A
KW - CAPN3
KW - Calpain-3
KW - Real-time RT-PCR
KW - Nonsense-mediated mRNA decay
N2 - 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
ER -
STEHLÍKOVÁ, Kristýna, Eva ZAPLETALOVÁ, Jana SEDLÁČKOVÁ, Markéta HERMANOVÁ, Petr VONDRÁČEK, Taťána MAŘÍKOVÁ, Radim MAZANEC, Josef ZÁMEČNÍK, Stanislav VOHÁŇKA, Jiří FAJKUS a Lenka FAJKUSOVÁ. Quantitative analysis of CAPN3 transcripts in LGMD2A patients: involvement of nonsense-mediated mRNA decay. \textit{Neuromuscular Disorders}. USA: Pergamon-Elsevier Science Ltd, 2007, roč.~17, č.~2, s.~143-147. ISSN~0960-8966.
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