About: Analysis of histopathologic and molecular genetic findings in Czech LGMD2A patients

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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)

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	Limb girdle muscular dystrophy type 2A (LGMD2A), the most prevalent recessive form of LGMD, is caused by single or small nucleotide changes widespread along the CAPN3 gene, which encodes the musclespecific proteolytic enzyme calpain-3 (p94). In 14 LGMD2A patients, analysis of the CAPN3 gene at both the mRNA level using reverse transcription-PCR and sequencing and at the DNA level using PCR and denaturing high performance liquid chromatography was performed. Limb girdle muscular dystrophy type 2A (LGMD2A), the most prevalent recessive form of LGMD, is caused by single or small nucleotide changes widespread along the CAPN3 gene, which encodes the musclespecific proteolytic enzyme calpain-3 (p94). In 14 LGMD2A patients, analysis of the CAPN3 gene at both the mRNA level using reverse transcription-PCR and sequencing and at the DNA level using PCR and denaturing high performance liquid chromatography was performed. (en)
Title	Analysis of histopathologic and molecular genetic findings in Czech LGMD2A patients Analysis of histopathologic and molecular genetic findings in Czech LGMD2A patients (en)
skos:prefLabel	Analysis of histopathologic and molecular genetic findings in Czech LGMD2A patients Analysis of histopathologic and molecular genetic findings in Czech LGMD2A patients (en)
skos:notation	RIV/00216224:14310/05:00014856!RIV10-MSM-14310___
http://linked.open...avai/riv/aktivita	Z
http://linked.open...avai/riv/aktivity	Z(MSM0021622415)
http://linked.open...vai/riv/dodaniDat	2010
http://linked.open...aciTvurceVysledku	Hermanová, Markéta Vondráček, Petr Fajkusová, Lenka Zapletalová, Eva
http://linked.open.../riv/druhVysledku	D - Článek ve sborníku
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	512060
http://linked.open...ai/riv/idVysledku	RIV/00216224:14310/05:00014856
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	LGMD2A; calpain3; RT-PCR (en)
http://linked.open.../riv/klicoveSlovo	RT-PCR LGMD2A calpain3
http://linked.open...ontrolniKodProRIV	[39FB74DB20FE]
http://linked.open...v/mistoKonaniAkce	Iguassu Falls
http://linked.open...i/riv/mistoVydani	Neuveden
http://linked.open...i/riv/nazevZdroje	Neuromuscular disorders
http://linked.open...in/vavai/riv/obor	FH
http://linked.open...ichTvurcuVysledku	4 (xsd:int)
http://linked.open...cetTvurcuVysledku	6 (xsd:int)
http://linked.open...UplatneniVysledku	2005
http://linked.open...iv/tvurceVysledku	Fajkusová, Lenka Hermanová, Markéta Sedláčková, Jana Zámečník, J. Vondráček, Petr Zapletalová, Eva
http://linked.open...vavai/riv/typAkce	WRD - Světová
http://linked.open.../riv/zahajeniAkce	2005-09-28 (xsd:date)
http://linked.open...n/vavai/riv/zamer	Molecular basis of cell and tissue regulations
issn	0960-8966
number of pages	1 (xsd:int)
http://purl.org/ne...btex#hasPublisher	Pergamon
http://localhost/t...ganizacniJednotka	14310

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