About: Mutations in the LMNA gene do not cause axonal CMT in Czech patients

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About: Mutations in the LMNA gene do not cause axonal CMT in Czech patients 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)

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	In Czech patients with axonal type of CMT we have not found pathogenic, causal mutations in the LMNA gene, therefore we conclude, that LMNA mutations are not relevant cause of CMT2 in Czech patients. In Czech patients with axonal type of CMT we have not found pathogenic, causal mutations in the LMNA gene, therefore we conclude, that LMNA mutations are not relevant cause of CMT2 in Czech patients. (en)
Title	Mutations in the LMNA gene do not cause axonal CMT in Czech patients Mutations in the LMNA gene do not cause axonal CMT in Czech patients (en)
skos:prefLabel	Mutations in the LMNA gene do not cause axonal CMT in Czech patients Mutations in the LMNA gene do not cause axonal CMT in Czech patients (en)
skos:notation	RIV/00216208:11130/09:5433!RIV10-MZ0-11130___
http://linked.open...avai/riv/aktivita	P
http://linked.open...avai/riv/aktivity	P(NR8330)
http://linked.open...iv/cisloPeriodika	6
http://linked.open...vai/riv/dodaniDat	2010
http://linked.open...aciTvurceVysledku	Seeman, Pavel Mazanec, Radim Haberlová, Jana Laššuthová, Petra 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	328107
http://linked.open...ai/riv/idVysledku	RIV/00216208:11130/09:5433
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	autosomal recessive Charcot-Marie-Tooth disease; HMSN II; Lamin A/C; MLPA; mutation; charcot-marie-tooth; lamin a/c gene; muscular-dystrophy; hereditary motor; disease maps; neuropathy; families; type-2; locus; form (en)
http://linked.open.../riv/klicoveSlovo	form type-2 MLPA families locus mutation hereditary motor neuropathy HMSN II Lamin A/C autosomal recessive Charcot-Marie-Tooth disease charcot-marie-tooth disease maps muscular-dystrophy lamin a/c gene
http://linked.open...odStatuVydavatele	JP - Japonsko
http://linked.open...ontrolniKodProRIV	[CA68088F1BA5]
http://linked.open...i/riv/nazevZdroje	Journal of Human Genetics
http://linked.open...in/vavai/riv/obor	EB
http://linked.open...ichTvurcuVysledku	5 (xsd:int)
http://linked.open...cetTvurcuVysledku	8 (xsd:int)
http://linked.open...vavai/riv/projekt	Lamin A/C gene (LMNA) analysis in patients and families with autosomal recessive, axonal type of inherited neuropathy Charcot-Marie-Tooth (AR CMT2).
http://linked.open...UplatneniVysledku	2009
http://linked.open...v/svazekPeriodika	54
http://linked.open...iv/tvurceVysledku	Laššuthová, Petra Seeman, Pavel Mazanec, Radim Haberlová, Jana Rautenstrauss, B. Baránková, Lucia Huehne, K. Wallace, A.
http://linked.open...ain/vavai/riv/wos	000268312700010
issn	1434-5161
number of pages	4 (xsd:int)
http://localhost/t...ganizacniJednotka	11130

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