About: Point mutations in Czech DMD/BMD patients and their phenotypic outcome

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An Entity of Type : http://linked.opendata.cz/ontology/domain/vavai/Vysledek, within Data Space : linked.opendata.cz associated with source document(s)

Attributes	Values
rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	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. 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. (en)
Title	Point mutations in Czech DMD/BMD patients and their phenotypic outcome Point mutations in Czech DMD/BMD patients and their phenotypic outcome (en)
skos:prefLabel	Point mutations in Czech DMD/BMD patients and their phenotypic outcome Point mutations in Czech DMD/BMD patients and their phenotypic outcome (en)
skos:notation	RIV/00216224:14310/09:00037278!RIV10-MZ0-14310___
http://linked.open...avai/riv/aktivita	P V Z
http://linked.open...avai/riv/aktivity	P(LC06023), V, Z(MSM0021622415), Z(MZ000064203), Z(MZ0FNM2005)
http://linked.open...iv/cisloPeriodika	11
http://linked.open...vai/riv/dodaniDat	2010
http://linked.open...aciTvurceVysledku	Voháňka, Stanislav Zámečník, Josef Hermanová, Markéta Vondráček, Petr Fajkusová, Lenka Sedláčková, Jana Maříková, Taťána
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Masarykova univerzita / Přírodovědecká fakulta
http://linked.open...dnocenehoVysledku	333969
http://linked.open...ai/riv/idVysledku	RIV/00216224:14310/09:00037278
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	Duchene muscular dystrophy; DMD; BMD (en)
http://linked.open.../riv/klicoveSlovo	Duchene muscular dystrophy BMD DMD
http://linked.open...odStatuVydavatele	CZ - Česká republika
http://linked.open...ontrolniKodProRIV	[EEF6797E2D35]
http://linked.open...i/riv/nazevZdroje	Neuromuscular Disorders
http://linked.open...in/vavai/riv/obor	EB
http://linked.open...ichTvurcuVysledku	7 (xsd:int)
http://linked.open...cetTvurcuVysledku	11 (xsd:int)
http://linked.open...vavai/riv/projekt	Integrated bioanalytical technologies for microanalyses and diagnostics with laser induced fluorescence and mass spectrometry coupling.
http://linked.open...UplatneniVysledku	2009
http://linked.open...v/svazekPeriodika	19
http://linked.open...iv/tvurceVysledku	Fajkusová, Lenka Hermanová, Markéta Kraus, Josef Sedláčková, Jana Voháňka, Stanislav Zámečník, Josef Vondráček, Petr Haberlová, Jana Hedvičáková, Petra Hrubá, Zuzana Maříková, Taťana
http://linked.open...ain/vavai/riv/wos	000272020400002
http://linked.open...n/vavai/riv/zamer	Molecular basis of cell and tissue regulations Zdokonalení časné diagnostiky, prevence a léčby těžkých vrozených vývojových vad a chorob geneticky podmíněných či s genetickou dispozicí v prenatální a postnatální fázi vývoje Klinicko-genetická studie poruch prenatálního a postnatálního vývoje k časné prevenci, diagnóze a léčbě těžkých VVV, chorob a nádorů s genetickou dispozicí
issn	0960-8966
number of pages	5 (xsd:int)
http://localhost/t...ganizacniJednotka	14310

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