About: Novel EGR2 mutation R359Q is asociated with CMT type 1 and progressive scoliosis

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About: Novel EGR2 mutation R359Q is asociated with CMT type 1 and progressive scoliosis 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	Novel EGR2 mutation R359Q is asociated with CMT type 1 and progressive scoliosis Nová mutace v genu EGR2 R359Q je asociována s CMT typu 1 a progresivní skoliosou (cs) Novel EGR2 mutation R359Q is asociated with CMT type 1 and progressive scoliosis (en)
Title	Novel EGR2 mutation R359Q is asociated with CMT type 1 and progressive scoliosis Nová mutace v genu EGR2 R359Q je asociována s CMT typu 1 a progresivní skoliosou (cs) Novel EGR2 mutation R359Q is asociated with CMT type 1 and progressive scoliosis (en)
skos:prefLabel	Novel EGR2 mutation R359Q is asociated with CMT type 1 and progressive scoliosis Nová mutace v genu EGR2 R359Q je asociována s CMT typu 1 a progresivní skoliosou (cs) Novel EGR2 mutation R359Q is asociated with CMT type 1 and progressive scoliosis (en)
skos:notation	RIV/00216208:11130/05:00004105!RIV06-MZ0-11130___
http://linked.open.../vavai/riv/strany	764;767
http://linked.open...avai/riv/aktivita	P Z
http://linked.open...avai/riv/aktivity	P(1A8254), Z(MZ000064203)
http://linked.open...iv/cisloPeriodika	11
http://linked.open...vai/riv/dodaniDat	2006
http://linked.open...aciTvurceVysledku	Seeman, Pavel Vyhnálková, Emilie
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 / 2. lékařská fakulta
http://linked.open...dnocenehoVysledku	533335
http://linked.open...ai/riv/idVysledku	RIV/00216208:11130/05:00004105
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	Novel; mutation; R359Q; asociated; progressive; scoliosis (en)
http://linked.open.../riv/klicoveSlovo	scoliosis progressive mutation Novel R359Q asociated
http://linked.open...odStatuVydavatele	GB - Spojené království Velké Británie a Severního Irska
http://linked.open...ontrolniKodProRIV	[81B0C16E9BE6]
http://linked.open...i/riv/nazevZdroje	Neuromuscular Disorders
http://linked.open...in/vavai/riv/obor	FH
http://linked.open...ichTvurcuVysledku	2 (xsd:int)
http://linked.open...cetTvurcuVysledku	8 (xsd:int)
http://linked.open...vavai/riv/projekt	Detection of mutations in the GDAP1, LITAF, PRX and NEFL genes as newly discovered possible causes of inherited neuropaties Charcot-Marie-Tooth - extended investigation in the large cohort of at least 300 Czech families without the most common mutations.
http://linked.open...UplatneniVysledku	2005
http://linked.open...v/svazekPeriodika	15
http://linked.open...iv/tvurceVysledku	Seeman, Pavel Mikešová, Emílie
http://linked.open...n/vavai/riv/zamer	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	4 (xsd:int)
http://localhost/t...ganizacniJednotka	11130
is http://linked.open...avai/riv/vysledek of	Novel EGR2 mutation R359Q is asociated with CMT type 1 and progressive scoliosis

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