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Statements

Subject Item
n2:RIV%2F67985807%3A_____%2F05%3A00031795%21RIV06-MZ0-67985807
rdf:type
skos:Concept n8:Vysledek
dcterms:description
Identifikovali jsme jedenáct nových mutací v genu pro alfa-galaktosidázu A v šestnácti českých a slovenských rodinách s výskytem Fabryho choroby (X-vázané onemocnění). Navrhli jsme skórovací systém založený na symptomech a laboratorních měřeních. Porovnali jsme stupeň X-inaktivace se skóre heterozygotů. Výsledky ukazují na silný vliv. Trend skóre v závislosti na věku u žen s X-inaktivací směrem k chromozomu s nemutovanou alelou byl prudší než trend ve zbytku kohorty. Eleven novel alpha-galactosidase A gene mutations were identified in sixteen Czech and Slovak families with Fabry disease (X-linked recessive). We designed a scoring scheme based on symptoms and laboratory parameters. We compared the degree of X-inactivation with score values of heterozygotes. Results indicate strong influence. The age-score trendline in female Fabry patients with X-inactivation skewed towards chromosome carrying wildtype allele was steeper than the trendline based on the rest of our cohort. Eleven novel alpha-galactosidase A gene mutations were identified in sixteen Czech and Slovak families with Fabry disease (X-linked recessive). We designed a scoring scheme based on symptoms and laboratory parameters. We compared the degree of X-inactivation with score values of heterozygotes. Results indicate strong influence. The age-score trendline in female Fabry patients with X-inactivation skewed towards chromosome carrying wildtype allele was steeper than the trendline based on the rest of our cohort.
dcterms:title
Relationship between X-inactivation and Clinical Involvement in Fabry Heterozygotes. Eleven Novel Mutations in the alpha-galactosidase A Gene in the Czech and Slovak Population Relationship between X-inactivation and Clinical Involvement in Fabry Heterozygotes. Eleven Novel Mutations in the alpha-galactosidase A Gene in the Czech and Slovak Population Vztah mezi x-aktivací a klinickými projevy u heterozygotů s Fabryho poruchou. Identifikace jedenácti nových mutací v GLA genu
skos:prefLabel
Vztah mezi x-aktivací a klinickými projevy u heterozygotů s Fabryho poruchou. Identifikace jedenácti nových mutací v GLA genu Relationship between X-inactivation and Clinical Involvement in Fabry Heterozygotes. Eleven Novel Mutations in the alpha-galactosidase A Gene in the Czech and Slovak Population Relationship between X-inactivation and Clinical Involvement in Fabry Heterozygotes. Eleven Novel Mutations in the alpha-galactosidase A Gene in the Czech and Slovak Population
skos:notation
RIV/67985807:_____/05:00031795!RIV06-MZ0-67985807
n6:strany
647;654
n6:aktivita
n13:Z n13:P
n6:aktivity
P(NE5770), Z(MSM 111100003), Z(MSM0021620806)
n6:cisloPeriodika
-
n6:dodaniDat
n14:2006
n6:domaciTvurceVysledku
n18:8033404
n6:druhVysledku
n17:J
n6:duvernostUdaju
n16:S
n6:entitaPredkladatele
n15:predkladatel
n6:idSjednocenehoVysledku
540656
n6:idVysledku
RIV/67985807:_____/05:00031795
n6:jazykVysledku
n9:eng
n6:klicovaSlova
Fabry disease; X-inactivation; mutation; score
n6:klicoveSlovo
n7:X-inactivation n7:score n7:mutation n7:Fabry%20disease
n6:kodStatuVydavatele
US - Spojené státy americké
n6:kontrolniKodProRIV
[507B156A4433]
n6:nazevZdroje
Journal of Molecular Medicine-Jmm
n6:obor
n10:BA
n6:pocetDomacichTvurcuVysledku
1
n6:pocetTvurcuVysledku
10
n6:projekt
n12:NE5770
n6:rokUplatneniVysledku
n14:2005
n6:svazekPeriodika
83
n6:tvurceVysledku
Dobrovolný, R. Ledvinová, J. Dvořáková, L. Karetova, D. Bultas, J. Lubanda, J. C. Magage, S. Hřebíček, M. Pavlíková, Markéta Elleder, M.
n6:zamer
n11:MSM%20111100003 n11:MSM0021620806
s:issn
0946-2716
s:numberOfPages
8