| SEDLÁČKOVÁ, Jana, Petr VONDRÁČEK, Markéta HERMANOVÁ, Josef ZÁMEČNÍK, Zuzana HRUBÁ, Jana HABERLOVÁ, Josef KRAUS, Taťana MAŘÍKOVÁ, Petra HEDVIČÁKOVÁ, Stanislav VOHÁŇKA and Lenka FAJKUSOVÁ. Point mutations in Czech DMD/BMD patients and their phenotypic outcome. Neuromuscular Disorders. USA: Pergamon-Elsevier Science Ltd, 2009, vol. 19, No 11, p. 749-753. ISSN 0960-8966. |
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@article{856251,
author = {Sedláčková, Jana and Vondráček, Petr and Hermanová, Markéta and Zámečník, Josef and Hrubá, Zuzana and Haberlová, Jana and Kraus, Josef and Maříková, Taťana and Hedvičáková, Petra and Voháňka, Stanislav and Fajkusová, Lenka},
article_location = {USA},
article_number = {11},
keywords = {Duchene muscular dystrophy; DMD; BMD},
language = {eng},
issn = {0960-8966},
journal = {Neuromuscular Disorders},
title = {Point mutations in Czech DMD/BMD patients and their phenotypic outcome},
volume = {19},
year = {2009}
}
TY - JOUR
ID - 856251
AU - Sedláčková, Jana - Vondráček, Petr - Hermanová, Markéta - Zámečník, Josef - Hrubá, Zuzana - Haberlová, Jana - Kraus, Josef - Maříková, Taťana - Hedvičáková, Petra - Voháňka, Stanislav - Fajkusová, Lenka
PY - 2009
TI - Point mutations in Czech DMD/BMD patients and their phenotypic outcome
JF - Neuromuscular Disorders
VL - 19
IS - 11
SP - 749-753
EP - 749-753
PB - Pergamon-Elsevier Science Ltd
SN - 09608966
KW - Duchene muscular dystrophy
KW - DMD
KW - BMD
N2 - Duchenne and Becker muscular dystrophies (DMD/BMD) are associated with mutations in the DMD gene. We determined the mutation status of 47 patients with dystrophinopathy without deletion or duplication in the DMD gene. Further, using quantitative analysis of DMD mRNA carrying various mutated alleles, we examine levels of mRNA degradation due to nonsense mediated mRNA decay. The quantity of dystrophin mRNA is different depending on the presence of a mutation leading to a premature termination codon, and position of the analysed mRNA region with respect to its 5 end or 3 end.
ER -
SEDLÁČKOVÁ, Jana, Petr VONDRÁČEK, Markéta HERMANOVÁ, Josef ZÁMEČNÍK, Zuzana HRUBÁ, Jana HABERLOVÁ, Josef KRAUS, Taťana MAŘÍKOVÁ, Petra HEDVIČÁKOVÁ, Stanislav VOHÁŇKA and Lenka FAJKUSOVÁ. Point mutations in Czech DMD/BMD patients and their phenotypic outcome. \textit{Neuromuscular Disorders}. USA: Pergamon-Elsevier Science Ltd, 2009, vol.~19, No~11, p.~749-753. ISSN~0960-8966.
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