About: Effect of an R69C mutation in the myelin protein zero gene on myelination and ion channel subtypes.

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About: Effect of an R69C mutation in the myelin protein zero gene on myelination and ion channel subtypes. Goto Sponge NotDistinct Permalink

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	BACKGROUND: Most mutations in the myelin protein zero gene (MPZ) typically cause a severe demyelinating/dysmyelinating neuropathy that begins in infancy or an adult-onset axonal neuropathy. Axonal degeneration in the late-onset H10P mutation may be cause BACKGROUND: Most mutations in the myelin protein zero gene (MPZ) typically cause a severe demyelinating/dysmyelinating neuropathy that begins in infancy or an adult-onset axonal neuropathy. Axonal degeneration in the late-onset H10P mutation may be cause (en) Mutace v MPZ geny působí typicky demyelinizaci peridferníách nervů. Byla provedena biopsie n.suralis u pacientky s potvrzenou mutací R69C v MPZ genu. Nález byl porovnán s biopsií provedenou před 20 lety. Porovnánmí zjistilo jen mírnou progresi nálezu. (cs)
Title	Effect of an R69C mutation in the myelin protein zero gene on myelination and ion channel subtypes. Efekt mutace R69C v MPZ genu na myelinizaci a subtypy iontových kanálů (cs) Effect of an R69C mutation in the myelin protein zero gene on myelination and ion channel subtypes. (en)
skos:prefLabel	Effect of an R69C mutation in the myelin protein zero gene on myelination and ion channel subtypes. Efekt mutace R69C v MPZ genu na myelinizaci a subtypy iontových kanálů (cs) Effect of an R69C mutation in the myelin protein zero gene on myelination and ion channel subtypes. (en)
skos:notation	RIV/00216208:11130/06:3062!RIV07-MZ0-11130___
http://linked.open.../vavai/riv/strany	1787-1794
http://linked.open...avai/riv/aktivita	P
http://linked.open...avai/riv/aktivity	P(1A8254)
http://linked.open...iv/cisloPeriodika	63
http://linked.open...vai/riv/dodaniDat	2007
http://linked.open...aciTvurceVysledku	Seeman, Pavel Mazanec, Radim
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	472954
http://linked.open...ai/riv/idVysledku	RIV/00216208:11130/06:3062
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	myelin protein zero; Charcot Marie Tooth; hereditary neuropathy; sural nerve biopsy (en)
http://linked.open.../riv/klicoveSlovo	myelin protein zero hereditary neuropathy Charcot Marie Tooth sural nerve biopsy
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[B625319938AA]
http://linked.open...i/riv/nazevZdroje	Archives of neurology
http://linked.open...in/vavai/riv/obor	FH
http://linked.open...ichTvurcuVysledku	2 (xsd:int)
http://linked.open...cetTvurcuVysledku	7 (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	2006
http://linked.open...v/svazekPeriodika	2006
http://linked.open...iv/tvurceVysledku	Seeman, Pavel Mazanec, Radim
issn	0003-9942
number of pages	8 (xsd:int)
http://localhost/t...ganizacniJednotka	11130
is http://linked.open...avai/riv/vysledek of	Effect of an R69C mutation in the myelin protein zero gene on myelination and ion channel subtypes. Effect of an R69C mutation in the myelin protein zero gene on myelination and ion channel subtypes.

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