About: Mucopolysaccharidosis Type I in 21 Czech and Slovak Patients: Mutation Analysis Suggests a Functional Importance of C-Terminus of the IDUA Protein

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About: Mucopolysaccharidosis Type I in 21 Czech and Slovak Patients: Mutation Analysis Suggests a Functional Importance of C-Terminus of the IDUA Protein 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	Mutation analysis of IDUA gene in 20 MPS I patients revealed 39 mutant alleles. Pathogenicity of the novel mutations was verified by transient expression studies. Haplotype analysis in Czech and Slovak population and in diagnosed patients was performed. Identified causative mutations in the 130 C-terminal amino acids indicate functional importance of the C-terminus of the IDUA protein. Mutation analysis of IDUA gene in 20 MPS I patients revealed 39 mutant alleles. Pathogenicity of the novel mutations was verified by transient expression studies. Haplotype analysis in Czech and Slovak population and in diagnosed patients was performed. Identified causative mutations in the 130 C-terminal amino acids indicate functional importance of the C-terminus of the IDUA protein. (en)
Title	Mucopolysaccharidosis Type I in 21 Czech and Slovak Patients: Mutation Analysis Suggests a Functional Importance of C-Terminus of the IDUA Protein Mucopolysaccharidosis Type I in 21 Czech and Slovak Patients: Mutation Analysis Suggests a Functional Importance of C-Terminus of the IDUA Protein (en)
skos:prefLabel	Mucopolysaccharidosis Type I in 21 Czech and Slovak Patients: Mutation Analysis Suggests a Functional Importance of C-Terminus of the IDUA Protein Mucopolysaccharidosis Type I in 21 Czech and Slovak Patients: Mutation Analysis Suggests a Functional Importance of C-Terminus of the IDUA Protein (en)
skos:notation	RIV/00216208:11110/09:4690!RIV10-MZ0-11110___
http://linked.open...avai/riv/aktivita	P Z
http://linked.open...avai/riv/aktivity	P(1M0520), Z(MSM0021620806), Z(MZ0VFN2005)
http://linked.open...iv/cisloPeriodika	5
http://linked.open...vai/riv/dodaniDat	2010
http://linked.open...aciTvurceVysledku	Myšková, Helena Zeman, Jiří Dvořáková, Lenka Magner, Martin Poupětová, Helena Vlášková, Hana Stolnaja, Larisa Hřebíček, Martin Berná, Linda
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	327892
http://linked.open...ai/riv/idVysledku	RIV/00216208:11110/09:4690
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	mucopolysaccharidosis 1; alpha-L-iduronidase; mutation; polymorphism; haplotype; alpha-l-iduronidase; enzyme-replacement therapy; bone-marrow-transplantation; molecular-genetics; hurler-syndrome; tunisian families; common mutation; identification; disease; phenotype (en)
http://linked.open.../riv/klicoveSlovo	haplotype enzyme-replacement therapy hurler-syndrome common mutation disease identification polymorphism phenotype mutation bone-marrow-transplantation alpha-L-iduronidase alpha-l-iduronidase mucopolysaccharidosis 1 tunisian families molecular-genetics
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[10DBB0F2E234]
http://linked.open...i/riv/nazevZdroje	American Journal of Medical Genetics - Part A
http://linked.open...in/vavai/riv/obor	FB
http://linked.open...ichTvurcuVysledku	9 (xsd:int)
http://linked.open...cetTvurcuVysledku	14 (xsd:int)
http://linked.open...vavai/riv/projekt	Center for Applied Genomics
http://linked.open...UplatneniVysledku	2009
http://linked.open...v/svazekPeriodika	149A
http://linked.open...iv/tvurceVysledku	Dvořáková, Lenka Magner, Martin Zeman, Jiří Hlavatá, Anna Poupětová, Helena Vlášková, Hana Hřebíček, Martin Stolnaja, Larisa Myšková, Helena Berná, Linda Vážna, Alžběta Beesley, Clare Boučková, Michaela Winchester, Brian
http://linked.open...ain/vavai/riv/wos	000265805900022
http://linked.open...n/vavai/riv/zamer	Molekulární biologie a patologie buňky za normy a u vybraných klinicky závažných patologických procesů Diagnosis and treatment of inherited disorders II
issn	1552-4825
number of pages	10 (xsd:int)
http://localhost/t...ganizacniJednotka	11110

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