About: Direct Molecular Diagnosis of CYP21A2 Point Mutations in Macedonian and Serbian Patients with 21-Hydroxylase Deficiency

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scientific article published on 08 October 2014

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rdf:type	Item
description	videnskabelig artikel (da) article científic (ca) articolo scientifico (it) artigo científico (pt) bilimsel makale (tr) vedecký článok (sk) vetenskaplig artikel (sv) vědecký článek (cs) wetenschappelijk artikel (nl) wissenschaftlicher Artikel (de) научни чланак (sr) article scientifique (fr) artículu científicu espublizáu en 2014 (ast) наукова стаття, опублікована в жовтні 2014 (uk) مقالة علمية نشرت في 08 أكتوبر 2014 (ar) scientific article published on 08 October 2014 (en)
publication date	wds:Q37041272-830682CE-6CBF-401C-B02B-08E6079BE3FF
publication date	2014-10-08 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q37041272-8C3F5EF8-1FAD-41EC-9699-29874C639FB3
language of work or name	English
cites work	wds:Q37041272-10909778-4F49-46A9-A440-B795182C524E wds:Q37041272-1A6ACF2D-7BB1-49C7-84C4-F45C09539698 wds:Q37041272-20050A44-E351-4F6D-9F6D-48345EF118F7 wds:Q37041272-2DFCC211-187D-4174-9055-FA69D1DF9B2D wds:Q37041272-30EB2155-5AC8-4190-A79E-19CB2056BAE8 wds:Q37041272-3168E7D1-D5A4-4843-B358-F1DBFED8F8F4 wds:Q37041272-36CD6FF3-CFCC-4C40-8A2A-619013792031 wds:Q37041272-3DA46196-CA72-4E96-B794-2EB598352E85 wds:Q37041272-533DC7F7-D0DE-4CBB-BC5C-D18DBCF995E5 wds:Q37041272-54CEB056-22BC-4B92-9B34-89973D95FFB1 wds:Q37041272-6D81DC81-E784-40C1-97D8-7B5D2A109674 wds:Q37041272-700F3D09-CB20-4D9D-A678-86872B04C940 wds:Q37041272-73B9B849-5EAB-4E42-AF26-4510D7FBDFC0 wds:Q37041272-78E410FC-D137-46A0-862E-8E87955D0AE0 wds:Q37041272-8B9AE29C-D026-4CC3-8AA8-67BEB10E43AA wds:Q37041272-8E8FBDEE-4946-4558-B26E-A075E9146FA0 wds:Q37041272-9B1DB9DD-A187-4D84-8DBC-EA202EEE4A98 wds:Q37041272-A93A81C5-4537-4923-A3B7-C4F671967096 wds:Q37041272-ACD1FF43-7FDB-4EDD-B640-A18595AEA55D wds:Q37041272-B1F2AB2E-0D03-4A8A-B72C-884A2017E40F wds:Q37041272-B4ED4CE3-5ED4-4630-B6F8-EF0FF4841605 wds:Q37041272-B7AC0819-C673-434E-8DCA-BA04C3BAFDC1 wds:Q37041272-BBA738B7-EF55-4891-A89D-C982C6256D46 wds:Q37041272-BC356AE9-973D-4E2D-BEED-41E11BC5EA09 wds:Q37041272-BD8C0B46-A05A-442B-8B87-85C4723DC640 wds:Q37041272-CE7A7CC0-0508-41CE-9259-382EB196721D wds:Q37041272-E9D5F96B-3759-4398-A929-B46773E1B65D wds:Q37041272-F12A1183-D265-4DE5-9371-15ED53996F4A wds:Q37041272-F4ABB437-A126-4427-BCF3-943600D3C731 wds:Q37041272-F5964F06-CB00-4346-AA42-A1DDBE3EEAE1 wds:Q37041272-FCE439BB-445E-4DA3-945D-E35C622CDE00
cites work	Congenital adrenal hyperplasia. (1). Population-wide evaluation of disease manifestation in relation to molecular genotype in steroid 21-hydroxylase (CYP21) deficiency: good correlation in a well defined population Gene conversions and unequal crossovers between CYP21 (steroid 21-hydroxylase gene) and CYP21P involve different mechanisms Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency A mutation (Pro-30 to Leu) in CYP21 represents a potential nonclassic steroid 21-hydroxylase deficiency allele Congenital lipoid adrenal hyperplasia: the human gene knockout for the steroidogenic acute regulatory protein Structure of human steroid 21-hydroxylase genes Mutation in the CYP21B gene (Ile-172----Asn) causes steroid 21-hydroxylase deficiency HLA-linked congenital adrenal hyperplasia results from a defective gene encoding a cytochrome P-450 specific for steroid 21-hydroxylation The molecular genetics of 21-hydroxylase deficiency Congenital adrenal hyperplasia due to 21-hydroxylase deficiency Carrier frequency of congenital adrenal hyperplasia (21-hydroxylase deficiency) in a middle European population Determination of functional effects of mutations in the steroid 21-hydroxylase gene (CYP21) using recombinant vaccinia virus Functional characterization of two novel point mutations in the CYP21 gene causing simple virilizing forms of congenital adrenal hyperplasia due to 21-hydroxylase deficiency Characterization of frequent deletions causing steroid 21-hydroxylase deficiency Phenotype-genotype correlation in 56 women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency Genetic basis of endocrine disease 2: congenital adrenal hyperplasia due to 21-hydroxylase deficiency The spectrum of molecular defects of the CYP21 gene in the Hellenic population: variable concordance between genotype and phenotype in the different forms of congenital adrenal hyperplasia Direct molecular diagnosis of CYP21 mutations in congenital adrenal hyperplasia Evidence for frequent gene conversion in the steroid 21-hydroxylase P-450(C21) gene: implications for steroid 21-hydroxylase deficiency High frequency of nonclassical steroid 21-hydroxylase deficiency Genotyping Steroid 21-Hydroxylase Deficiency: Hormonal Reference Data* Silver staining of denaturing gradient gel electrophoresis gels Phenotype and genotype correlation of the microconversion from the CYP21A1P to the CYP21A2 gene in congenital adrenal hyperplasia. The common I172N mutation causes conformational change of cytochrome P450c21 revealed by systematic mutation, kinetic, and structural studies Mutational spectrum of steroid 21-hydroxylase and the genotype-phenotype association in Middle European patients with congenital adrenal hyperplasia p.H62L, a rare mutation of the CYP21 gene identified in two forms of 21-hydroxylase deficiency A cluster of missense mutations at Arg356 of human steroid 21-hydroxylase may impair redox partner interaction Phenotypic heterogeneity associated with the splicing mutation in congenital adrenal hyperplasia due to 21-hydroxylase deficiency The common P450 oxidoreductase variant A503V is not a modifier gene for 21-hydroxylase deficiency Frequency of CYP21 gene mutations in Czech patients with steroid 21-hydroxylase deficiency and statistical comparison with other populations.
author name string	wds:Q37041272-5828DDB2-41AA-4719-9545-B8EFD83482E5 wds:Q37041272-8A8F8F3A-3140-47F5-8AC5-D45126C6A779 wds:Q37041272-AFE56CFD-EBD4-443C-AB95-DF6EAE144FA2
author name string	Mirjana Kocova Violeta Anastasovska Tatjana Milenković
rdfs:label	Direct Molecular Diagnosis of CYP21A2 Point Mutations in Macedonian and Serbian Patients with 21-Hydroxylase Deficiency (en) Direct Molecular Diagnosis of CYP21A2 Point Mutations in Macedonian and Serbian Patients with 21-Hydroxylase Deficiency (nl) Direct Molecular Diagnosis of CYP21A2 Point Mutations in Macedonian and Serbian Patients with 21-Hydroxylase Deficiency (ast)
skos:prefLabel	Direct Molecular Diagnosis of CYP21A2 Point Mutations in Macedonian and Serbian Patients with 21-Hydroxylase Deficiency (en) Direct Molecular Diagnosis of CYP21A2 Point Mutations in Macedonian and Serbian Patients with 21-Hydroxylase Deficiency (nl) Direct Molecular Diagnosis of CYP21A2 Point Mutations in Macedonian and Serbian Patients with 21-Hydroxylase Deficiency (ast)
name	Direct Molecular Diagnosis of CYP21A2 Point Mutations in Macedonian and Serbian Patients with 21-Hydroxylase Deficiency (en) Direct Molecular Diagnosis of CYP21A2 Point Mutations in Macedonian and Serbian Patients with 21-Hydroxylase Deficiency (nl) Direct Molecular Diagnosis of CYP21A2 Point Mutations in Macedonian and Serbian Patients with 21-Hydroxylase Deficiency (ast)
title	wds:Q37041272-B2F50585-7044-466D-A531-7E747D8D34EE
title	Direct Molecular Diagnosis of CYP21A2 Point Mutations in Macedonian and Serbian Patients with 21-Hydroxylase Deficiency (en)

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