About: Novel mutations associated with metachromatic leukodystrophy: phenotype and expression studies in nine Czech and Slovak patients

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About: Novel mutations associated with metachromatic leukodystrophy: phenotype and expression studies in nine Czech and Slovak patients Goto Sponge NotDistinct Permalink

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	arylsulfatáza A, metachromatická leukodystrofie (cs) arylsulphatase A, metachromatic leukodystrophy arylsulphatase A, metachromatic leukodystrophy (en)
Title	Nové mutace způsobující metachromatickou leukodystrofii: Fenotyp a expresní studie u devíti českých a slovenských pacientů (cs) Novel mutations associated with metachromatic leukodystrophy: phenotype and expression studies in nine Czech and Slovak patients Novel mutations associated with metachromatic leukodystrophy: phenotype and expression studies in nine Czech and Slovak patients (en)
skos:prefLabel	Nové mutace způsobující metachromatickou leukodystrofii: Fenotyp a expresní studie u devíti českých a slovenských pacientů (cs) Novel mutations associated with metachromatic leukodystrophy: phenotype and expression studies in nine Czech and Slovak patients Novel mutations associated with metachromatic leukodystrophy: phenotype and expression studies in nine Czech and Slovak patients (en)
skos:notation	RIV/00216208:11110/04:00008171!RIV/2005/MSM/111105/N
http://linked.open.../vavai/riv/strany	277;281
http://linked.open...avai/riv/aktivita	Z
http://linked.open...avai/riv/aktivity	Z(MSM 111100003)
http://linked.open...iv/cisloPeriodika	3
http://linked.open...vai/riv/dodaniDat	2005
http://linked.open...aciTvurceVysledku	Berná, Linda
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	Univerzita Karlova v Praze / 1. lékařská fakulta
http://linked.open...dnocenehoVysledku	576717
http://linked.open...ai/riv/idVysledku	RIV/00216208:11110/04:00008171
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	Novel; mutations; associated; metachromatic; leukodystrophy; phenotype; expression; studies; Czech; Slovak; patients (en)
http://linked.open.../riv/klicoveSlovo	patients associated Czech expression mutations studies Slovak phenotype Novel metachromatic leukodystrophy
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[DE12D3A73F80]
http://linked.open...i/riv/nazevZdroje	American Journal of Medical Genetics
http://linked.open...in/vavai/riv/obor	EB
http://linked.open...ichTvurcuVysledku	1 (xsd:int)
http://linked.open...cetTvurcuVysledku	6 (xsd:int)
http://linked.open...UplatneniVysledku	2004
http://linked.open...v/svazekPeriodika	129A
http://linked.open...iv/tvurceVysledku	Berná, Linda
http://linked.open...n/vavai/riv/zamer	http://linked.opendata.cz/resource/domain/vavai/zamer/MSM%20111100003
issn	0148-7299
number of pages	5 (xsd:int)
http://localhost/t...ganizacniJednotka	11110

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