About: SIMPLE Mutation in Demyelinating neuropathy and Distribution in Sciatic Nerve

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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	Ke stanovení prevalence mutace SIMPLE bylo vyšetřeno 152 jedinců s různými typy demyelinizační nebo axonální sebnzitivní a motorické neuropatie. Dva typy mutací v SIMPLE G112S a W116G byly nalezeny pouze u CMT pacientů. (cs) To investigate the prevalence of SIMPLE mutations, we screened a cohort of 152 probands with various type of demyelinatingor axonal a pure motor or sensory inherited neuropathies. To investigate the prevalence of SIMPLE mutations, we screened a cohort of 152 probands with various type of demyelinatingor axonal a pure motor or sensory inherited neuropathies. (en)
Title	SIMPLE Mutation in Demyelinating neuropathy and Distribution in Sciatic Nerve SIMPLE Mutation in Demyelinating neuropathy and Distribution in Sciatic Nerve (en) SIMPLE mutace u lidské demyelinizační neuropatie a distribuce v lidském sedacím nervu (cs)
skos:prefLabel	SIMPLE Mutation in Demyelinating neuropathy and Distribution in Sciatic Nerve SIMPLE Mutation in Demyelinating neuropathy and Distribution in Sciatic Nerve (en) SIMPLE mutace u lidské demyelinizační neuropatie a distribuce v lidském sedacím nervu (cs)
skos:notation	RIV/00216208:11130/04:00006667!RIV/2005/MSM/111305/N
http://linked.open.../vavai/riv/strany	713;720
http://linked.open...avai/riv/aktivita	P Z
http://linked.open...avai/riv/aktivity	P(NF6504), Z(MSM 111300003)
http://linked.open...iv/cisloPeriodika	5
http://linked.open...vai/riv/dodaniDat	2005
http://linked.open...aciTvurceVysledku	Seeman, Pavel
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	586224
http://linked.open...ai/riv/idVysledku	RIV/00216208:11130/04:00006667
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	SIMPLE; Mutation; Demyelinating; neuropathy; Distribution; Sciatic; Nerve (en)
http://linked.open.../riv/klicoveSlovo	SIMPLE Sciatic Distribution Mutation neuropathy Nerve Demyelinating
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[7859902F528B]
http://linked.open...i/riv/nazevZdroje	Annals of Neurology
http://linked.open...in/vavai/riv/obor	FH
http://linked.open...ichTvurcuVysledku	1 (xsd:int)
http://linked.open...cetTvurcuVysledku	5 (xsd:int)
http://linked.open...vavai/riv/projekt	Detection of point mutations i Cx32, MPZ, EGR2 and PMP22 genes in patients with inherited peripheral neuropathies without 17p11.2-12 rearrangement
http://linked.open...UplatneniVysledku	2004
http://linked.open...v/svazekPeriodika	55
http://linked.open...iv/tvurceVysledku	Seeman, Pavel
http://linked.open...n/vavai/riv/zamer	http://linked.opendata.cz/resource/domain/vavai/zamer/MSM%20111300003
issn	0364-5134
number of pages	8 (xsd:int)
http://localhost/t...ganizacniJednotka	11130

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