About: High prevalence of the IVS 1+1 G to A/GJB2 mutation among Czech hearing impaired patients with monoallelic mutation in the coding region of GJB2

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

About: High prevalence of the IVS 1+1 G to A/GJB2 mutation among Czech hearing impaired patients with monoallelic mutation in the coding region of GJB2 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	Biallelic pathogenic GJB2 gene mutations cause pre-lingual genetic hearing loss in up to 50% of individuals with bilateral sensorineural hearing loss worldwide. Sequencing of the entire GJB2 gene-coding region in Czech patients with pre-lingual bilater Biallelic pathogenic GJB2 gene mutations cause pre-lingual genetic hearing loss in up to 50% of individuals with bilateral sensorineural hearing loss worldwide. Sequencing of the entire GJB2 gene-coding region in Czech patients with pre-lingual bilater (en) Vysoká prevalence mutace IVS 1+1 G to A v GJB2 genu mezi českými pacienty s poruchou sluchu a pouze jednou monoalelickou mutací v kodující oblasti GJB2 genu (cs)
Title	High prevalence of the IVS 1+1 G to A/GJB2 mutation among Czech hearing impaired patients with monoallelic mutation in the coding region of GJB2 Vysoká prevalence mutace IVS 1+1 G to A v GJB2 genu mezi českými pacienty s poruchou sluchu a pouze jednou monoalelickou mutací v kodující oblasti GJB2 genu (cs) High prevalence of the IVS 1+1 G to A/GJB2 mutation among Czech hearing impaired patients with monoallelic mutation in the coding region of GJB2 (en)
skos:prefLabel	High prevalence of the IVS 1+1 G to A/GJB2 mutation among Czech hearing impaired patients with monoallelic mutation in the coding region of GJB2 Vysoká prevalence mutace IVS 1+1 G to A v GJB2 genu mezi českými pacienty s poruchou sluchu a pouze jednou monoalelickou mutací v kodující oblasti GJB2 genu (cs) High prevalence of the IVS 1+1 G to A/GJB2 mutation among Czech hearing impaired patients with monoallelic mutation in the coding region of GJB2 (en)
skos:notation	RIV/00216208:11130/06:149!RIV07-MZ0-11130___
http://linked.open.../vavai/riv/strany	410-413
http://linked.open...avai/riv/aktivita	P
http://linked.open...avai/riv/aktivity	P(1A8235)
http://linked.open...iv/cisloPeriodika	5
http://linked.open...vai/riv/dodaniDat	2007
http://linked.open...aciTvurceVysledku	Seeman, Pavel
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	477667
http://linked.open...ai/riv/idVysledku	RIV/00216208:11130/06:149
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	MIDWESTERN UNITED-STATES; SENSORINEURAL DEAFNESS; CONNEXIN-26 MUTATIONS; CONGENITAL DEAFNESS; EASTERN AUSTRIA; POPULATION; GENE; DEL(GJB6-D13S1830); SPECTRUM; ORIGINS (en)
http://linked.open.../riv/klicoveSlovo	POPULATION GENE SPECTRUM ORIGINS CONGENITAL DEAFNESS CONNEXIN-26 MUTATIONS DEL(GJB6-D13S1830) EASTERN AUSTRIA MIDWESTERN UNITED-STATES SENSORINEURAL DEAFNESS
http://linked.open...odStatuVydavatele	DK - Dánské království
http://linked.open...ontrolniKodProRIV	[E8DF9C6CE0A0]
http://linked.open...i/riv/nazevZdroje	Clinical Genetics
http://linked.open...in/vavai/riv/obor	FH
http://linked.open...ichTvurcuVysledku	1 (xsd:int)
http://linked.open...cetTvurcuVysledku	2 (xsd:int)
http://linked.open...vavai/riv/projekt	Neuroactive steroids in male reproduction
http://linked.open...UplatneniVysledku	2006
http://linked.open...v/svazekPeriodika	69
http://linked.open...iv/tvurceVysledku	Seeman, Pavel
issn	0009-9163
number of pages	4 (xsd:int)
http://localhost/t...ganizacniJednotka	11130
is http://linked.open...avai/riv/vysledek of	High prevalence of the IVS 1+1 G to A/GJB2 mutation among Czech hearing impaired patients with monoallelic mutation in the coding region of GJB2 High prevalence of the IVS 1+1 G to A/GJB2 mutation among Czech hearing impaired patients with monoallelic mutation in the coding region of GJB2

Faceted Search & Find service v1.16.116 as of Feb 22 2024

Alternative Linked Data Documents: ODE Content Formats:

RDF

ODATA

Microdata

About

OpenLink Virtuoso version 07.20.3239 as of Feb 22 2024, on Linux (x86_64-pc-linux-gnu), Single-Server Edition (126 GB total memory, 67 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software