About: Six New Gap Junction Beta 1 Gene Mutations and Their Phenotypic Expression in Czech Patients with Charcot-Marie-Tooth Disease

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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)

Attributes	Values
rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	Six new gap junction beta 1 gene mutations and their phenotypic expression in Czech patients with Charcot-Marie-Tooth disease. Five mutations seem to be pathogenic and one V170I is a non-pathogenic polymorphism. Six new gap junction beta 1 gene mutations and their phenotypic expression in Czech patients with Charcot-Marie-Tooth disease. Five mutations seem to be pathogenic and one V170I is a non-pathogenic polymorphism. (en)
Title	Six New Gap Junction Beta 1 Gene Mutations and Their Phenotypic Expression in Czech Patients with Charcot-Marie-Tooth Disease Six New Gap Junction Beta 1 Gene Mutations and Their Phenotypic Expression in Czech Patients with Charcot-Marie-Tooth Disease (en)
skos:prefLabel	Six New Gap Junction Beta 1 Gene Mutations and Their Phenotypic Expression in Czech Patients with Charcot-Marie-Tooth Disease Six New Gap Junction Beta 1 Gene Mutations and Their Phenotypic Expression in Czech Patients with Charcot-Marie-Tooth Disease (en)
skos:notation	RIV/00064203:_____/10:6452!RIV11-MZ0-00064203
http://linked.open...avai/riv/aktivita	S Z
http://linked.open...avai/riv/aktivity	S, Z(MZ0FNM2005)
http://linked.open...iv/cisloPeriodika	1
http://linked.open...vai/riv/dodaniDat	2011
http://linked.open...aciTvurceVysledku	Seeman, Pavel Mazanec, Radim Haberlová, Jana
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	Fakultní nemocnice v Motole
http://linked.open...dnocenehoVysledku	287623
http://linked.open...ai/riv/idVysledku	RIV/00064203:_____/10:6452
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	connexin 32 gene; de-novo mutation; hereditary neuropathy; sensory neuropathy; central conduction; pressure palsies; deletion; type-1; liability; families (en)
http://linked.open.../riv/klicoveSlovo	liability deletion families type-1 sensory neuropathy hereditary neuropathy pressure palsies central conduction connexin 32 gene de-novo mutation
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[9B11B5338A30]
http://linked.open...i/riv/nazevZdroje	Genetic Testing and Molecular Biomarkers
http://linked.open...in/vavai/riv/obor	EB
http://linked.open...ichTvurcuVysledku	3 (xsd:int)
http://linked.open...cetTvurcuVysledku	6 (xsd:int)
http://linked.open...UplatneniVysledku	2010
http://linked.open...v/svazekPeriodika	14
http://linked.open...iv/tvurceVysledku	Seeman, Pavel Mazanec, Radim Haberlová, Jana Brožková, Dana Šubrt, Ivan Sakmaryová, Ivana
http://linked.open...ain/vavai/riv/wos	000274422700002
http://linked.open...n/vavai/riv/zamer	Zdokonalení časné diagnostiky, prevence a léčby těžkých vrozených vývojových vad a chorob geneticky podmíněných či s genetickou dispozicí v prenatální a postnatální fázi vývoje
issn	1945-0265
number of pages	5 (xsd:int)
is http://linked.open...avai/riv/vysledek of	Six New Gap Junction Beta 1 Gene Mutations and Their Phenotypic Expression in Czech Patients with Charcot-Marie-Tooth Disease Six New Gap Junction Beta 1 Gene Mutations and Their Phenotypic Expression in Czech Patients with Charcot-Marie-Tooth Disease Six New Gap Junction Beta 1 Gene Mutations and Their Phenotypic Expression in Czech Patients with Charcot-Marie-Tooth Disease

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