about
The molecular biology, biochemistry, and physiology of human steroidogenesis and its disordersApparent gene conversions involving the SMN gene in the region of the spinal muscular atrophy locus on chromosome 5Recent advances in biochemical and molecular analysis of congenital adrenal hyperplasia due to 21-hydroxylase deficiencyAn overview of molecular diagnosis of steroid 21-hydroxylase deficiencyCongenital adrenal hyperplasia: molecular genetics and alternative approaches to treatment.CYP21 mutations and congenital adrenal hyperplasia.CYP21A2 gene mutations in congenital adrenal hyperplasia: genotype-phenotype correlation in Turkish childrenIdentification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approachEthnic-specific distribution of mutations in 716 patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency.The clinical and biochemical spectrum of congenital adrenal hyperplasia secondary to 21-hydroxylase deficiency.Long-term Follow up of Congenital Adrenal Hyperplasia Patients with Hyponatremia.CYP21A2 gene mutation analysis in Moroccan patients with classic form of 21-hydroxylase deficiency: high regional prevalence of p.Q318X mutation and identification of a novel p.L353R mutation.High frequency of splice site mutation in 21-hydroxylase deficiency children.Constitutive human steroid 21-hydroxylase promoter gene and pseudogene activity in steroidogenic and nonsteroidogenic cells with the luciferase gene as a reporter.Engineering of versatile redox partner fusions that support monooxygenase activity of functionally diverse cytochrome P450s.Embryonic expression of tenascin-X suggests a role in limb, muscle, and heart development.Transcriptional regulatory elements of the human gene for cytochrome P450c21 (steroid 21-hydroxylase) lie within intron 35 of the linked C4B gene.Molecular genetic analysis of CYP21A2 gene in patients with congenital adrenal hyperplasia.Do reduced levels of steroid 21-hydroxylase confer a survival advantage in fetuses affected by sex chromosome aberrations?Comprehensive mutation analysis of the CYP21A2 gene: an efficient multistep approach to the molecular diagnosis of congenital adrenal hyperplasia.CYP21A2 genetic profile in 14 Egyptian children with suspected congenital adrenal hyperplasia: a diagnostic challenge.21-hydroxylase genotyping in Australasian patients with congenital adrenal hyperplasia.Genetic mechanisms of human hypertension and their implications for blood pressure physiology.High carrier frequency of 21-hydroxylase deficiency in Cyprus.Three novel CYP21A2 mutations and their protein modelling in patients with classical 21-hydroxylase deficiency from northeastern Iran.Genotyping of CYP21A2 for congenital adrenal hyperplasia screening using allele-specific primer extension followed by bead array hybridization.
P2860
Q24613957-A30F0C0A-EC64-423E-9E86-90A28FE886BCQ24675821-F5886BDA-6AB2-489A-B845-25BA696AAB37Q26751005-2700E836-5B75-43DA-ABBC-F84EC2D45C8EQ28366403-7167907E-3CE1-4B9A-9933-D3F831B63DD5Q33732658-7F7A1811-C75B-41BF-A2AB-B46AAB18B125Q34255314-621DBF13-0264-4FA9-978B-0DC21D377405Q34423067-E8D9A97A-0B57-4643-B285-5FBCEB19C20EQ35250423-86809EED-75DF-47CD-86CD-C0774B4BE886Q35829925-E195161C-2D77-4574-BB96-EA37634F6FFCQ37242225-97686914-215F-4C3B-8AF5-0CC6882382BBQ37489113-B4EB17CD-A185-4336-9B3B-B4C2C3FE749DQ38856980-A492786C-AAEC-40B8-AC6E-8D91D72E8411Q39452062-DE21242B-3D01-4739-B9DD-BC06E2FE37FAQ41275558-59BCB2BF-244C-4C25-B8AC-9FF26FCF4DA3Q41549163-76680B1B-1636-4CDD-B5C7-A85EEB546BE7Q41658996-DBD9DF62-43C5-4AB7-AE89-26BC19EA6472Q41710397-3B96743C-0274-4650-9D79-EEDF1BC53CA8Q42035746-1990DAD8-46D6-4789-917A-7C5CD88CA1DCQ43951028-0A86C374-80C1-413E-9049-F03E29CEAE70Q45233469-F72C99C7-C564-403D-A054-0024ED918DAEQ47269654-A801C678-B777-4BB1-8FEB-DA6C7BF0AFF9Q47779032-4141A2BB-FA33-4B6A-8E75-278AD432B5C8Q48100826-3D966DAC-150C-417F-AB6E-800B310CCE4BQ51060333-8F1E54BD-D217-401A-9421-FA5DE412F59BQ51749956-2622C933-3F37-4651-80A7-912722B124ABQ53489679-36CE8662-7B1B-4E8C-B6B5-07C57615CE3D
P2860
description
1994 nî lūn-bûn
@nan
1994 թուականին հրատարակուած գիտական յօդուած
@hyw
1994 թվականին հրատարակված գիտական հոդված
@hy
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
name
Mutations in steroid 21-hydroxylase (CYP21)
@ast
Mutations in steroid 21-hydroxylase (CYP21)
@en
Mutations in steroid 21-hydroxylase (CYP21)
@nl
type
label
Mutations in steroid 21-hydroxylase (CYP21)
@ast
Mutations in steroid 21-hydroxylase (CYP21)
@en
Mutations in steroid 21-hydroxylase (CYP21)
@nl
prefLabel
Mutations in steroid 21-hydroxylase (CYP21)
@ast
Mutations in steroid 21-hydroxylase (CYP21)
@en
Mutations in steroid 21-hydroxylase (CYP21)
@nl
P2093
P356
P1433
P1476
Mutations in steroid 21-hydroxylase (CYP21)
@en
P2093
M T Tusie-Luna
P W Speiser
P356
10.1002/HUMU.1380030408
P407
P577
1994-01-01T00:00:00Z