About: A 71-nucleotide deletion in the periaxin gene in a Romani patient with early-onset slowly progressive demyelinating CMT

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About: A 71-nucleotide deletion in the periaxin gene in a Romani patient with early-onset slowly progressive demyelinating CMT 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	Mutations in the periaxin (PRX) gene cause autosomal recessive demyelinating neuropathy Charcot-Marie-Tooth (CMT) type 4F. Mutations in the periaxin (PRX) gene cause autosomal recessive demyelinating neuropathy Charcot-Marie-Tooth (CMT) type 4F. (en) Mutace PRX genu zapříčiňuje autosománní recesivní demyelinatickou neuropatii Charcot-Marie-Tooth (CMT) typu 4 (cs)
Title	A 71-nucleotide deletion in the periaxin gene in a Romani patient with early-onset slowly progressive demyelinating CMT A 71-nukleotidy vypuštěné v periaxin genu u cikánských pacientů s předčasně nastupující pomale progresivní demyelinatickou CMT (cs) A 71-nucleotide deletion in the periaxin gene in a Romani patient with early-onset slowly progressive demyelinating CMT (en)
skos:prefLabel	A 71-nucleotide deletion in the periaxin gene in a Romani patient with early-onset slowly progressive demyelinating CMT A 71-nukleotidy vypuštěné v periaxin genu u cikánských pacientů s předčasně nastupující pomale progresivní demyelinatickou CMT (cs) A 71-nucleotide deletion in the periaxin gene in a Romani patient with early-onset slowly progressive demyelinating CMT (en)
skos:notation	RIV/00216208:11130/08:4020!RIV09-MZ0-11130___
http://linked.open...avai/riv/aktivita	P
http://linked.open...avai/riv/aktivity	P(1A8254)
http://linked.open...iv/cisloPeriodika	6
http://linked.open...vai/riv/dodaniDat	2009
http://linked.open...aciTvurceVysledku	Seeman, Pavel Bojar, Martin Baránková, Lucia
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	354618
http://linked.open...ai/riv/idVysledku	RIV/00216208:11130/08:4020
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	ARCMT; Charcot-Marie-tooth disease; CMT4F; demyelinating CMT; PRX; marie-tooth-disease; myelinating schwann-cells; hereditary motor; mutations cause; neuropathy; protein; localization (en)
http://linked.open.../riv/klicoveSlovo	protein localization ARCMT CMT4F Charcot-Marie-tooth disease PRX demyelinating CMT hereditary motor mutations cause myelinating schwann-cells neuropathy marie-tooth-disease
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[889CF2853F40]
http://linked.open...i/riv/nazevZdroje	European Journal of Neurology
http://linked.open...in/vavai/riv/obor	FH
http://linked.open...ichTvurcuVysledku	3 (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	2008
http://linked.open...v/svazekPeriodika	15
http://linked.open...iv/tvurceVysledku	Seeman, Pavel Bojar, Martin Baránková, Lucia
http://linked.open...ain/vavai/riv/wos	000255702200009
issn	1351-5101
number of pages	4 (xsd:int)
http://localhost/t...ganizacniJednotka	11130
is http://linked.open...avai/riv/vysledek of	A 71-nucleotide deletion in the periaxin gene in a Romani patient with early-onset slowly progressive demyelinating CMT A 71-nucleotide deletion in the periaxin gene in a Romani patient with early-onset slowly progressive demyelinating CMT A 71-nucleotide deletion in the periaxin gene in a Romani patient with early-onset slowly progressive demyelinating CMT A 71-nucleotide deletion in the periaxin gene in a Romani patient with early-onset slowly progressive demyelinating CMT

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