About: Genotyping microarray as a novel approach for the detection of ATP7B gene mutations in patients with Wilson disease

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

About: Genotyping microarray as a novel approach for the detection of ATP7B gene mutations in patients with Wilson disease 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	Wilson disease (WD) is an autosomal recessive inherited disorder of copper metabolism, which is caused by mutations in the ATP7B gene. To date, more than 300 mutations have been described in this gene. Molecular diagnostics of Wilson disease utilizes restriction enzyme digestion, MLPA or a direct sequencing. To simplify and speed up the screening of ATP7B mutations, we have developed a genotyping microarray for the simultaneous detection of 87 mutations and 17 polymorphisms in the ATP7B gene based on the arrayed primer extension reaction (APEX). The Wilson microarray was validated by screening 97 previously genetically confirmed WD patients. In total, we detected 43 mutations and 15 polymorphisms, which represent a majority of the common mutations occurring in the Czech and Slovak populations. The Wilson chip appears to be a rapid, sensitive and cost-effective tool for the first line screening of potential WD patients. Wilson disease (WD) is an autosomal recessive inherited disorder of copper metabolism, which is caused by mutations in the ATP7B gene. To date, more than 300 mutations have been described in this gene. Molecular diagnostics of Wilson disease utilizes restriction enzyme digestion, MLPA or a direct sequencing. To simplify and speed up the screening of ATP7B mutations, we have developed a genotyping microarray for the simultaneous detection of 87 mutations and 17 polymorphisms in the ATP7B gene based on the arrayed primer extension reaction (APEX). The Wilson microarray was validated by screening 97 previously genetically confirmed WD patients. In total, we detected 43 mutations and 15 polymorphisms, which represent a majority of the common mutations occurring in the Czech and Slovak populations. The Wilson chip appears to be a rapid, sensitive and cost-effective tool for the first line screening of potential WD patients. (en)
Title	Genotyping microarray as a novel approach for the detection of ATP7B gene mutations in patients with Wilson disease Genotyping microarray as a novel approach for the detection of ATP7B gene mutations in patients with Wilson disease (en)
skos:prefLabel	Genotyping microarray as a novel approach for the detection of ATP7B gene mutations in patients with Wilson disease Genotyping microarray as a novel approach for the detection of ATP7B gene mutations in patients with Wilson disease (en)
skos:notation	RIV/00216224:14310/08:00040070!RIV10-MZ0-14310___
http://linked.open...avai/riv/aktivita	P
http://linked.open...avai/riv/aktivity	P(LC06023), P(NR8451)
http://linked.open...iv/cisloPeriodika	1
http://linked.open...vai/riv/dodaniDat	2010
http://linked.open...aciTvurceVysledku	Kozák, L. Gojová, Lucie
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	Masarykova univerzita / Přírodovědecká fakulta
http://linked.open...dnocenehoVysledku	369179
http://linked.open...ai/riv/idVysledku	RIV/00216224:14310/08:00040070
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	Wilson chip; microarrays; Wilson disease; APEX technology; ATP7B gene (en)
http://linked.open.../riv/klicoveSlovo	microarrays Wilson disease APEX technology ATP7B gene Wilson chip
http://linked.open...odStatuVydavatele	CZ - Česká republika
http://linked.open...ontrolniKodProRIV	[4EA2BF7376F9]
http://linked.open...i/riv/nazevZdroje	Clinical Genetics
http://linked.open...in/vavai/riv/obor	FD
http://linked.open...ichTvurcuVysledku	2 (xsd:int)
http://linked.open...cetTvurcuVysledku	5 (xsd:int)
http://linked.open...vavai/riv/projekt	Integrated bioanalytical technologies for microanalyses and diagnostics with laser induced fluorescence and mass spectrometry coupling. Application of DNA chips (microarrays) for molecular diagnosis of inherited diseases
http://linked.open...UplatneniVysledku	2008
http://linked.open...v/svazekPeriodika	73
http://linked.open...iv/tvurceVysledku	Jansová, Eva Gojová, Lucie Kozák, Libor Pouchlá, Slávka Kulm, M.
http://linked.open...ain/vavai/riv/wos	000254788800007
issn	0009-9163
number of pages	12 (xsd:int)
http://localhost/t...ganizacniJednotka	14310

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, 48 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software