About: Eight novel ABCD1 gene mutations and three polymorphisms in patient with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acid exchange

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About: Eight novel ABCD1 gene mutations and three polymorphisms in patient with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acid exchange 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	adrenoleukodystrophy - X-ALD -Addison disease adrenoleukodystrophy - X-ALD -Addison disease (en)
Title	Eight novel ABCD1 gene mutations and three polymorphisms in patient with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acid exchange Eight novel ABCD1 gene mutations and three polymorphisms in patient with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acid exchange (en)
skos:prefLabel	Eight novel ABCD1 gene mutations and three polymorphisms in patient with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acid exchange Eight novel ABCD1 gene mutations and three polymorphisms in patient with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acid exchange (en)
skos:notation	RIV/00216208:11110/01:00110560!RIV/2002/MZ0/111102/N
http://linked.open.../vavai/riv/strany	52;60
http://linked.open...avai/riv/aktivita	P
http://linked.open...avai/riv/aktivity	P(NE5770), P(VS96127)
http://linked.open...iv/cisloPeriodika	18
http://linked.open...vai/riv/dodaniDat	2002
http://linked.open...aciTvurceVysledku	Štorkánová, Gabriela Kmoch, Stanislav Dvořáková, Lenka Hřebíček, Martin
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 / 1. lékařská fakulta
http://linked.open...dnocenehoVysledku	678945
http://linked.open...ai/riv/idVysledku	RIV/00216208:11110/01:00110560
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	Eight;novel;ABCD1;mutations;three;polymorphisms;patient;X-linked;adrenoleukodystrophy;first;polymorphism;causing;amino;exchange (en)
http://linked.open.../riv/klicoveSlovo	amino first mutations patient polymorphism polymorphisms exchange causing three novel ABCD1 Eight X-linked adrenoleukodystrophy
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[7568A09D9696]
http://linked.open...i/riv/nazevZdroje	Human Mutation
http://linked.open...in/vavai/riv/obor	EB
http://linked.open...ichTvurcuVysledku	4 (xsd:int)
http://linked.open...cetTvurcuVysledku	5 (xsd:int)
http://linked.open...ocetUcastnikuAkce	0 (xsd:int)
http://linked.open...nichUcastnikuAkce	0 (xsd:int)
http://linked.open...vavai/riv/projekt	Fabry disease and X.-linked adrenoleucodystrophy: mutation analysis of alpha-galactosidase A and ALD-protein genes in the Czech patiens. Center of molecular medicine
http://linked.open...UplatneniVysledku	2001
http://linked.open...v/svazekPeriodika	neuveden
http://linked.open...iv/tvurceVysledku	Dvořáková, Lenka Kmoch, Stanislav Hřebíček, Martin Štorkánová, Gabriela
issn	1059-7794
number of pages	9 (xsd:int)
http://localhost/t...ganizacniJednotka	11110

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