About: GDAP1 mutations in Czech families with early-onset CMT

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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	Mutations in the ganglioside-induced differentiation associated protein-1 gene (GDAP1) cause autosomal recessive (AR) demyelinating or axonal Charcot-Marie-Tooth neuropathy (CMT). In order to establish the spectrum and frequency of GDAP1 mutations in Cze Mutations in the ganglioside-induced differentiation associated protein-1 gene (GDAP1) cause autosomal recessive (AR) demyelinating or axonal Charcot-Marie-Tooth neuropathy (CMT). In order to establish the spectrum and frequency of GDAP1 mutations in Cze (en) GDAP1 gen byl sekvcenován u 74 českých pacientů ze 69 rodin. Byly prokázány mutace L239F a R191X. U 3 pacientů byly mutace na obou alelách, u dvou dalších pacientů byly mutace ne jedné alele. (cs)
Title	GDAP1 mutations in Czech families with early-onset CMT GDAP1 mutace v českých rodinách s časnou formou CMT (cs) GDAP1 mutations in Czech families with early-onset CMT (en)
skos:prefLabel	GDAP1 mutations in Czech families with early-onset CMT GDAP1 mutace v českých rodinách s časnou formou CMT (cs) GDAP1 mutations in Czech families with early-onset CMT (en)
skos:notation	RIV/00064203:_____/07:1619!RIV08-MZ0-00064203
http://linked.open.../vavai/riv/strany	482-489
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	2008
http://linked.open...aciTvurceVysledku	Seeman, Pavel Bojar, Martin Mazanec, Radim 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	Fakultní nemocnice v Motole
http://linked.open...dnocenehoVysledku	422989
http://linked.open...ai/riv/idVysledku	RIV/00064203:_____/07:1619
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	HMSN type II; Charcot-Marie-Tooth disease; autosomal recessive CMT2; GDAP1; R191X; L239F; marie-tooth-disease; differentiation-associated protein-1; autosomal recessive cmt; clinical-features; hereditary motor; vocal cord; gene; neuropathy; variability; s194x (en)
http://linked.open.../riv/klicoveSlovo	variability gene Charcot-Marie-Tooth disease hereditary motor neuropathy clinical-features marie-tooth-disease autosomal recessive cmt differentiation-associated protein-1 vocal cord GDAP1 HMSN type II L239F R191X autosomal recessive CMT2 s194x
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[514D3CFD4822]
http://linked.open...i/riv/nazevZdroje	Neuromuscular Disorders
http://linked.open...in/vavai/riv/obor	FH
http://linked.open...ichTvurcuVysledku	4 (xsd:int)
http://linked.open...cetTvurcuVysledku	11 (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	2007
http://linked.open...v/svazekPeriodika	17
http://linked.open...iv/tvurceVysledku	Seeman, Pavel Bojar, Martin Mazanec, Radim Vyhnálková, Emilie
issn	0960-8966
number of pages	8 (xsd:int)

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