Polymorphism of the human complement C4 and steroid 21-hydroxylase genes. Restriction fragment length polymorphisms revealing structural deletions, homoduplications, and size variants.
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Real-time PCR quantification of human complement C4A and C4B genes.Infections of People with Complement Deficiencies and Patients Who Have Undergone SplenectomyC4B null alleles are not associated with genetic polymorphisms in the adjacent gene CYP21A2 in autismPulsed field gel electrophoresis identifies a high degree of variability in the number of tandem 21-hydroxylase and complement C4 gene repeats in 21-hydroxylase deficiency haplotypes.Characterization of frequent deletions causing steroid 21-hydroxylase deficiency.21-hydroxylase deficiency families with HLA identical affected and unaffected sibs.Novel deletion alleles carrying CYP21A1P/A2 chimeric genes in Brazilian patients with 21-hydroxylase deficiencyNon-expression of a common mutation in the 21-hydroxylase gene: implications for prenatal diagnosis and carrier testing.Modular variations of the human major histocompatibility complex class III genes for serine/threonine kinase RP, complement component C4, steroid 21-hydroxylase CYP21, and tenascin TNX (the RCCX module). A mechanism for gene deletions and disease asDeficiencies of human complement component C4A and C4B and heterozygosity in length variants of RP-C4-CYP21-TNX (RCCX) modules in caucasians. The load of RCCX genetic diversity on major histocompatibility complex-associated disease.Lack of evidence of a specific role for C4A gene deficiency in determining disease susceptibility among C4-deficient patients with systemic lupus erythematosus (SLE).Evolution of the mouse H-2K region: a hot spot of mutation associated with genes transcribed in embryos and/or germ cells.Human copy number polymorphic genesMajor histocompatibility complex class III genes and susceptibility to immunoglobulin A deficiency and common variable immunodeficiency.CYP21 mutations and congenital adrenal hyperplasia.Uniparental isodisomy 6 associated with deficiency of the fourth component of complement.P450XXI (steroid 21-hydroxylase) gene deletions are not found in family studies of congenital adrenal hyperplasia.Rearrangements and point mutations of P450c21 genes are distinguished by five restriction endonuclease haplotypes identified by a new probing strategy in 57 families with congenital adrenal hyperplasia.Gene conversion in steroid 21-hydroxylase genes.Gene conversions, deletions, and polymorphisms in congenital adrenal hyperplasia.A unique recombination event resulting in a C4A*Q0,C4B*Q0 double null haplotype.Major histocompatibility complex haplotypes and complement C4 alleles in systemic lupus erythematosus. Results of a multicenter studyStructural differences between the two human complement C4 isotypes affect the humoral immune response.Differences in gene copy number carried by different MHC ancestral haplotypes. Quantitation after physical separation of haplotypes by pulsed field gel electrophoresis.Determining the one, two, three, or four long and short loci of human complement C4 in a major histocompatibility complex haplotype encoding C4A or C4B proteins.Phenotypes, genotypes and disease susceptibility associated with gene copy number variations: complement C4 CNVs in European American healthy subjects and those with systemic lupus erythematosus.Haplotypes of the steroid 21-hydroxylase gene region encoding mild steroid 21-hydroxylase deficiency.Genesis by meiotic unequal crossover of a de novo deletion that contributes to steroid 21-hydroxylase deficiency.Genetic risk factors for perinatally acquired HIV-1 infection.Genetic basis of human complement C4A deficiency. Detection of a point mutation leading to nonexpression.Counterregulatory effects of interferon-gamma and endotoxin on expression of the human C4 genes.Genetic deficiencies of the complement system and association with disease--early components.Genetic deficiencies of complement.Molecular characterisation of C4 null alleles found in Felty's syndrome.Major-histocompatibility-complex gene markers and restriction-fragment analysis of steroid 21-hydroxylase (CYP21) and complement C4 genes in classical congenital adrenal hyperplasia patients in a single population.Heterogeneity in the gene locus for steroid 21-hydroxylase deficiency.Detection and cellular localization of human C4 gene expression in the renal tubular epithelial cells and other extrahepatic epithelial sources.Null alleles of human complement C4. Evidence for pseudogenes at the C4A locus and for gene conversion at the C4B locus.Direct observation of the gene organization of the complement C4 and 21-hydroxylase loci by pulsed field gel electrophoresis.HLADR5 and C4BQO high frequency and antinuclear antibodies positivity in patients with 21 hydroxylase deficiency from Campania region.
P2860
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P2860
Polymorphism of the human complement C4 and steroid 21-hydroxylase genes. Restriction fragment length polymorphisms revealing structural deletions, homoduplications, and size variants.
description
1986 nî lūn-bûn
@nan
1986 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1986 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
1986年の論文
@ja
1986年論文
@yue
1986年論文
@zh-hant
1986年論文
@zh-hk
1986年論文
@zh-mo
1986年論文
@zh-tw
1986年论文
@wuu
name
Polymorphism of the human comp ...... plications, and size variants.
@ast
Polymorphism of the human comp ...... plications, and size variants.
@en
Polymorphism of the human comp ...... plications, and size variants.
@nl
type
label
Polymorphism of the human comp ...... plications, and size variants.
@ast
Polymorphism of the human comp ...... plications, and size variants.
@en
Polymorphism of the human comp ...... plications, and size variants.
@nl
prefLabel
Polymorphism of the human comp ...... plications, and size variants.
@ast
Polymorphism of the human comp ...... plications, and size variants.
@en
Polymorphism of the human comp ...... plications, and size variants.
@nl
P2093
P2860
P356
P1476
Polymorphism of the human comp ...... plications, and size variants.
@en
P2093
A S Whitehead
H R Colten
M C Carroll
P M Schneider
P2860
P304
P356
10.1172/JCI112623
P407
P577
1986-09-01T00:00:00Z