About: Charcot-Marie-Tooth type X : A novel mutation in the Cx32 gene with central conduction slowing

Facets (new session)
Description
Metadata
Settings
- owl:sameAs
- Inference Rule:

About: Charcot-Marie-Tooth type X : A novel mutation in the Cx32 gene with central conduction slowing 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 X chromosomal gene Connexin32 are detectable in most X-linked CMT families.We report a novel missense mutation--Tyr65His--in the first extracelullar domain of the Cx32 in a Czech CMTX1 family. Mutations in the X chromosomal gene Connexin32 are detectable in most X-linked CMT families.We report a novel missense mutation--Tyr65His--in the first extracelullar domain of the Cx32 in a Czech CMTX1 family. (en)
Title	Charcot-Marie-Tooth type X : A novel mutation in the Cx32 gene with central conduction slowing Charcot-Marie-Tooth type X : A novel mutation in the Cx32 gene with central conduction slowing (en)
skos:prefLabel	Charcot-Marie-Tooth type X : A novel mutation in the Cx32 gene with central conduction slowing Charcot-Marie-Tooth type X : A novel mutation in the Cx32 gene with central conduction slowing (en)
skos:notation	RIV/00216208:11130/01:00104171!RIV/2002/MZ0/111302/N
http://linked.open.../vavai/riv/strany	461;468
http://linked.open...avai/riv/aktivita	P Z
http://linked.open...avai/riv/aktivity	P(NF6504), Z(MSM 111300003)
http://linked.open...iv/cisloPeriodika	1
http://linked.open...vai/riv/dodaniDat	2002
http://linked.open...aciTvurceVysledku	Čtvrtečková, Markéta 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	675451
http://linked.open...ai/riv/idVysledku	RIV/00216208:11130/01:00104171
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	Charcot-Marie-Tooth;novel;mutation;central;conduction;slowing (en)
http://linked.open.../riv/klicoveSlovo	Charcot-Marie-Tooth central conduction mutation novel slowing
http://linked.open...odStatuVydavatele	GB - Spojené království Velké Británie a Severního Irska
http://linked.open...ontrolniKodProRIV	[13B111EC54F0]
http://linked.open...i/riv/nazevZdroje	International Journal of Molecular Medicine
http://linked.open...in/vavai/riv/obor	FH
http://linked.open...ichTvurcuVysledku	3 (xsd:int)
http://linked.open...cetTvurcuVysledku	4 (xsd:int)
http://linked.open...ocetUcastnikuAkce	0 (xsd:int)
http://linked.open...nichUcastnikuAkce	0 (xsd:int)
http://linked.open...vavai/riv/projekt	Detection of point mutations i Cx32, MPZ, EGR2 and PMP22 genes in patients with inherited peripheral neuropathies without 17p11.2-12 rearrangement
http://linked.open...UplatneniVysledku	2001
http://linked.open...v/svazekPeriodika	8/4
http://linked.open...iv/tvurceVysledku	Seeman, Pavel Mazanec, Radim Čtvrtečková, Markéta
http://linked.open...n/vavai/riv/zamer	http://linked.opendata.cz/resource/domain/vavai/zamer/MSM%20111300003
issn	1107-3756
number of pages	8 (xsd:int)
http://localhost/t...ganizacniJednotka	11130

Faceted Search & Find service v1.16.118 as of Jun 21 2024

Alternative Linked Data Documents: ODE Content Formats:

RDF

ODATA

Microdata

About

OpenLink Virtuoso version 07.20.3240 as of Jun 21 2024, on Linux (x86_64-pc-linux-gnu), Single-Server Edition (126 GB total memory, 77 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software