About: Identification of CYP21A2 mutant alleles in Czech patients with 21-hydroxylase deficiency.

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About: Identification of CYP21A2 mutant alleles in Czech patients with 21-hydroxylase deficiency. 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	Congenital adrenal hyperplasia (CAH) is comprised of a group of autosomal recessive disorders caused by an enzymatic deficiency which impairs the biosynthesis of cortisol and, in most of the severe cases, also the biosynthesis of aldosterone. Approximately 90-95% of all the CAH cases are due to mutations in the steroid 21-hydroxylase gene (CYP21A2). In this study, the molecular genetic analysis of CYP21A2 was performed in 267 Czech probands suspected of 21-hydroxylase deficiency (21OHD). 21OHD was confirmed in 241 probands (2 mutations were detected). In 26 probands, a mutation was found only in 1 CYP21A2 allele. Congenital adrenal hyperplasia (CAH) is comprised of a group of autosomal recessive disorders caused by an enzymatic deficiency which impairs the biosynthesis of cortisol and, in most of the severe cases, also the biosynthesis of aldosterone. Approximately 90-95% of all the CAH cases are due to mutations in the steroid 21-hydroxylase gene (CYP21A2). In this study, the molecular genetic analysis of CYP21A2 was performed in 267 Czech probands suspected of 21-hydroxylase deficiency (21OHD). 21OHD was confirmed in 241 probands (2 mutations were detected). In 26 probands, a mutation was found only in 1 CYP21A2 allele. (en)
Title	Identification of CYP21A2 mutant alleles in Czech patients with 21-hydroxylase deficiency. Identification of CYP21A2 mutant alleles in Czech patients with 21-hydroxylase deficiency. (en)
skos:prefLabel	Identification of CYP21A2 mutant alleles in Czech patients with 21-hydroxylase deficiency. Identification of CYP21A2 mutant alleles in Czech patients with 21-hydroxylase deficiency. (en)
skos:notation	RIV/00216224:14310/10:00074543!RIV15-MSM-14310___
http://linked.open...avai/riv/aktivita	I P Z
http://linked.open...avai/riv/aktivity	I, P(LC06023), P(NR9308), P(NS9981), Z(MSM0021620814), Z(MSM0021622415)
http://linked.open...iv/cisloPeriodika	4
http://linked.open...vai/riv/dodaniDat	2015
http://linked.open...aciTvurceVysledku	Fajkusová, Lenka
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	Masarykova univerzita / Přírodovědecká fakulta
http://linked.open...dnocenehoVysledku	262695
http://linked.open...ai/riv/idVysledku	RIV/00216224:14310/10:00074543
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	CYP21A2; CAH (en)
http://linked.open.../riv/klicoveSlovo	CAH CYP21A2
http://linked.open...odStatuVydavatele	GR - Řecká republika
http://linked.open...ontrolniKodProRIV	[5006B583923D]
http://linked.open...i/riv/nazevZdroje	International Journal of Molecular Medicine
http://linked.open...in/vavai/riv/obor	FD
http://linked.open...ichTvurcuVysledku	1 (xsd:int)
http://linked.open...cetTvurcuVysledku	7 (xsd:int)
http://linked.open...vavai/riv/projekt	Integrated bioanalytical technologies for microanalyses and diagnostics with laser induced fluorescence and mass spectrometry coupling. Improvement of molecular diagnostics of congenital adrenal hyperplasia (CAH) Analysis of CYP21 genes in newborns with mild elevated 17-hydroxyprogesterone level.
http://linked.open...UplatneniVysledku	2010
http://linked.open...v/svazekPeriodika	26
http://linked.open...iv/tvurceVysledku	Fajkusová, Lenka Votava, Felix Vrzalová, Zuzana Hrabincová, Eva Hrubá, Zuzana Vrábelová, Slávka Kolousková, Stanislava
http://linked.open...ain/vavai/riv/wos	000281917800021
http://linked.open...n/vavai/riv/zamer	Prevention, diagnostics and therapy of diabetes mellitus, metabolic and endocrine damage of organism Molecular basis of cell and tissue regulations
issn	1107-3756
number of pages	9 (xsd:int)
http://bibframe.org/vocab/doi	10.3892/ijmm_00000504
http://localhost/t...ganizacniJednotka	14310

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