About: Genetic variants of transferrin in the diagnostics of proteins hypoglycosylation     Goto   Sponge   NotDistinct   Permalink

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Description
  • Lidský tranferin (Tf) vykazuje genetické polymorfizmy, které mohou ovlivnit průzkum vrozených poruch glykosylace (CDG). V Tf analýze u kontrolních a vyšetřovaných skupin pacientů bylo použito izoleektrické fokusování následované přímou imunofixací. Dvojznačné výsledky v jednom případě byly posouzeny jako vzácná Tf CD varianta. Vyšší incidence některých genetických variant byla spojena s jistými chorobami; ze 7 Tf fenotypů detekovaných v našem souboru vzorků nebyla zjevně vyšší frekvence Tf C1C2 varianty nalézaná v některých skupinách pacientů významná. (cs)
  • Human transferrin (Tf) shows genetic polymorphisms, which may interfere in the screening of congenital disorders of glycosylation (CDG). Isoelectric focusing followed by direct immunofixation was used for Tf analysis in controls and several groups of patients. Equivocal results in one case have been recognized as a rare Tf CD variant. A higher incidence of some genetic variants has been reported in connection with certain diseases; of the seven Tf phenotypes detected in our set of samples, an apparently higher frequency of Tf C1C2 variant found in some groups of patients was not significant.
  • Human transferrin (Tf) shows genetic polymorphisms, which may interfere in the screening of congenital disorders of glycosylation (CDG). Isoelectric focusing followed by direct immunofixation was used for Tf analysis in controls and several groups of patients. Equivocal results in one case have been recognized as a rare Tf CD variant. A higher incidence of some genetic variants has been reported in connection with certain diseases; of the seven Tf phenotypes detected in our set of samples, an apparently higher frequency of Tf C1C2 variant found in some groups of patients was not significant. (en)
Title
  • Genetic variants of transferrin in the diagnostics of proteins hypoglycosylation
  • Genetic variants of transferrin in the diagnostics of proteins hypoglycosylation (en)
  • Genetic variants of transferrin in the diagnostics of proteins hypoglycosylation (cs)
skos:prefLabel
  • Genetic variants of transferrin in the diagnostics of proteins hypoglycosylation
  • Genetic variants of transferrin in the diagnostics of proteins hypoglycosylation (en)
  • Genetic variants of transferrin in the diagnostics of proteins hypoglycosylation (cs)
skos:notation
  • RIV/00216208:11150/05:00004779!RIV08-MSM-11150___
http://linked.open.../vavai/riv/strany
  • 1;5
http://linked.open...avai/riv/aktivita
http://linked.open...avai/riv/aktivity
  • S
http://linked.open...iv/cisloPeriodika
  • 6
http://linked.open...vai/riv/dodaniDat
http://linked.open...aciTvurceVysledku
http://linked.open.../riv/druhVysledku
http://linked.open...iv/duvernostUdaju
http://linked.open...titaPredkladatele
http://linked.open...dnocenehoVysledku
  • 522561
http://linked.open...ai/riv/idVysledku
  • RIV/00216208:11150/05:00004779
http://linked.open...riv/jazykVysledku
http://linked.open.../riv/klicovaSlova
  • Genetic; variants; transferrin; diagnostics; proteins; hypoglycosylation (en)
http://linked.open.../riv/klicoveSlovo
http://linked.open...odStatuVydavatele
  • NL - Nizozemsko
http://linked.open...ontrolniKodProRIV
  • [96C0D05D7CE6]
http://linked.open...i/riv/nazevZdroje
  • Journal of Inherited Metabolic Diseases
http://linked.open...in/vavai/riv/obor
http://linked.open...ichTvurcuVysledku
http://linked.open...cetTvurcuVysledku
http://linked.open...UplatneniVysledku
http://linked.open...v/svazekPeriodika
  • 28
http://linked.open...iv/tvurceVysledku
  • Marklová, Eliška
  • Vaníček, Hubert
issn
  • 0141-8955
number of pages
http://localhost/t...ganizacniJednotka
  • 11150
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