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Statements

Subject Item
n2:RIV%2F00064203%3A_____%2F09%3A5370%21RIV10-MZ0-00064203
rdf:type
n5:Vysledek skos:Concept
dcterms:description
Steroid 17 alpha-hydroxylase (CYP17A1, alias P450c17) deficiency (17OHD) is a rare form of congenital adrenal hyperplasia. The CYP17A1 enzyme catalyzes two distinct reactions, 17 alpha-hydroxylase and 17,20-lyase activities. The aim of the study was to analyze the structural and functional consequences of three novel (A174E, V178D, and L465P) and one previously reported (R440C) CYP17A1 mutation found in three patients clinically and biochemically presenting with 17OHD. Steroid 17 alpha-hydroxylase (CYP17A1, alias P450c17) deficiency (17OHD) is a rare form of congenital adrenal hyperplasia. The CYP17A1 enzyme catalyzes two distinct reactions, 17 alpha-hydroxylase and 17,20-lyase activities. The aim of the study was to analyze the structural and functional consequences of three novel (A174E, V178D, and L465P) and one previously reported (R440C) CYP17A1 mutation found in three patients clinically and biochemically presenting with 17OHD.
dcterms:title
Steroid 17 alpha-Hydroxylase Deficiency: Functional Characterization of Four Mutations (A174E, V178D, R440C, L465P) in the CYP17A1 Gene Steroid 17 alpha-Hydroxylase Deficiency: Functional Characterization of Four Mutations (A174E, V178D, R440C, L465P) in the CYP17A1 Gene
skos:prefLabel
Steroid 17 alpha-Hydroxylase Deficiency: Functional Characterization of Four Mutations (A174E, V178D, R440C, L465P) in the CYP17A1 Gene Steroid 17 alpha-Hydroxylase Deficiency: Functional Characterization of Four Mutations (A174E, V178D, R440C, L465P) in the CYP17A1 Gene
skos:notation
RIV/00064203:_____/09:5370!RIV10-MZ0-00064203
n3:aktivita
n12:V
n3:aktivity
V
n3:cisloPeriodika
8
n3:dodaniDat
n7:2010
n3:domaciTvurceVysledku
n15:6858430
n3:druhVysledku
n14:J
n3:duvernostUdaju
n11:S
n3:entitaPredkladatele
n9:predkladatel
n3:idSjednocenehoVysledku
343824
n3:idVysledku
RIV/00064203:_____/09:5370
n3:jazykVysledku
n16:eng
n3:klicovaSlova
genotype-phenotype correlations; isolated 17,20-lyase deficiency; congenital adrenal-hyperplasia; differential inhibition; p450 oxidoreductase; cytochrome p450c17; point mutation; identification; aldosterone; female
n3:klicoveSlovo
n4:point%20mutation n4:congenital%20adrenal-hyperplasia n4:p450%20oxidoreductase n4:genotype-phenotype%20correlations n4:identification n4:aldosterone n4:20-lyase%20deficiency n4:differential%20inhibition n4:isolated%2017 n4:female n4:cytochrome%20p450c17
n3:kodStatuVydavatele
US - Spojené státy americké
n3:kontrolniKodProRIV
[DFB131757690]
n3:nazevZdroje
Journal of Clinical Endocrinology & Metabolism
n3:obor
n8:FB
n3:pocetDomacichTvurcuVysledku
1
n3:pocetTvurcuVysledku
11
n3:rokUplatneniVysledku
n7:2009
n3:svazekPeriodika
94
n3:tvurceVysledku
Riepe, FG Arlt, W. Bleicken, CM Dhir, V. Grotzinger, J. Sippell, WG Reisch, N. Schwarz, H. P. Kamrath, C. Krone, N. Lebl, Jan
n3:wos
000268687700058
s:issn
0021-972X
s:numberOfPages
7