About: Mutational spectrum of steroid 21-hydroxylase and the genotype-phenotype association in Middle European patients with congenital adrenal hyperplasia     Goto   Sponge   NotDistinct   Permalink

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Description
  • To analyze the mutational spectrum of steroid 21-hydroxylase (CYP21) and the genotype-phenotype correlation in patients with congenital adrenal hyperplasia (CAH) registered in the Middle European Society for Pediatric Endocrinology CAH database, and to design a reliable and rational approach for CYP21 mutation detection in Middle European populations.
  • To analyze the mutational spectrum of steroid 21-hydroxylase (CYP21) and the genotype-phenotype correlation in patients with congenital adrenal hyperplasia (CAH) registered in the Middle European Society for Pediatric Endocrinology CAH database, and to design a reliable and rational approach for CYP21 mutation detection in Middle European populations. (en)
  • Bylo analyzováno mutační spektrum steroidní 21-hydroxylázy (CYP21) a korelace genotyp ? fenotyp u pacientů s kongenitální adrenální hyperplazií registrovaných v databázi Středoevropské společnosti dětské endokrinologie, byl vytvořen spolehlivý a racionální přístup k detekci mutací CYP21 ve středoevropské populaci (cs)
Title
  • Mutational spectrum of steroid 21-hydroxylase and the genotype-phenotype association in Middle European patients with congenital adrenal hyperplasia
  • Spektrum mutací steroidní 21-hydroxylázy a vztah genotyp-fenotyp u pacientů s kongenitální adrenální hyperplazií ve střední Evropě (cs)
  • Mutational spectrum of steroid 21-hydroxylase and the genotype-phenotype association in Middle European patients with congenital adrenal hyperplasia (en)
skos:prefLabel
  • Mutational spectrum of steroid 21-hydroxylase and the genotype-phenotype association in Middle European patients with congenital adrenal hyperplasia
  • Spektrum mutací steroidní 21-hydroxylázy a vztah genotyp-fenotyp u pacientů s kongenitální adrenální hyperplazií ve střední Evropě (cs)
  • Mutational spectrum of steroid 21-hydroxylase and the genotype-phenotype association in Middle European patients with congenital adrenal hyperplasia (en)
skos:notation
  • RIV/00216208:11120/05:00000743!RIV09-MSM-11120___
http://linked.open...avai/riv/aktivita
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  • S
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  • 1
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  • 531707
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  • RIV/00216208:11120/05:00000743
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  • Cyp21 gene; disease manifestation; molecular genotype; deficiency; population; diagnosis; identification; conversion; lessons (en)
http://linked.open.../riv/klicoveSlovo
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  • GB - Spojené království Velké Británie a Severního Irska
http://linked.open...ontrolniKodProRIV
  • [D510857A7ED4]
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  • European Journal of Endocrinology
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http://linked.open...UplatneniVysledku
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  • 153
http://linked.open...iv/tvurceVysledku
  • Lebl, Jan
  • Votava, Felix
  • Frisch, H.
  • Krzisnik, C.
  • Rákosníková, Veronika
  • Battelino, T.
  • Baumgartner-Parzer, S. M.
  • Dolzan, V.
  • Fekete, G.
  • Kovacs, J.
  • Pribilincová, Z.
  • Riedl, S.
  • Solyom, J.
  • Stopar-Obreza, M.
  • Waldhauser, F.
http://linked.open...ain/vavai/riv/wos
  • 000230677400013
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  • 0804-4643
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  • 11120
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