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rdf:type
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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. (cs)
- 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. (en)
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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 (en)
- Vztah mezi x-aktivací a klinickými projevy u heterozygotů s Fabryho poruchou. Identifikace jedenácti nových mutací v GLA genu (cs)
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skos:prefLabel
| - 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 (en)
- Vztah mezi x-aktivací a klinickými projevy u heterozygotů s Fabryho poruchou. Identifikace jedenácti nových mutací v GLA genu (cs)
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skos:notation
| - RIV/67985807:_____/05:00031795!RIV06-MZ0-67985807
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http://linked.open.../vavai/riv/strany
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http://linked.open...avai/riv/aktivita
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http://linked.open...avai/riv/aktivity
| - P(NE5770), Z(MSM 111100003), Z(MSM0021620806)
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http://linked.open...iv/cisloPeriodika
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http://linked.open...vai/riv/dodaniDat
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http://linked.open...aciTvurceVysledku
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http://linked.open.../riv/druhVysledku
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http://linked.open...iv/duvernostUdaju
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http://linked.open...titaPredkladatele
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http://linked.open...dnocenehoVysledku
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http://linked.open...ai/riv/idVysledku
| - RIV/67985807:_____/05:00031795
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http://linked.open...riv/jazykVysledku
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http://linked.open.../riv/klicovaSlova
| - Fabry disease; X-inactivation; mutation; score (en)
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http://linked.open.../riv/klicoveSlovo
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http://linked.open...odStatuVydavatele
| - US - Spojené státy americké
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http://linked.open...ontrolniKodProRIV
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http://linked.open...i/riv/nazevZdroje
| - Journal of Molecular Medicine-Jmm
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http://linked.open...in/vavai/riv/obor
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http://linked.open...ichTvurcuVysledku
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http://linked.open...cetTvurcuVysledku
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http://linked.open...vavai/riv/projekt
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http://linked.open...UplatneniVysledku
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http://linked.open...v/svazekPeriodika
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http://linked.open...iv/tvurceVysledku
| - Dvořáková, L.
- Hřebíček, M.
- Pavlíková, Markéta
- Ledvinová, J.
- Elleder, M.
- Magage, S.
- Bultas, J.
- Dobrovolný, R.
- Karetova, D.
- Lubanda, J. C.
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http://linked.open...n/vavai/riv/zamer
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issn
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number of pages
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