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1983 1
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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.
Wu YL, Yang Y, Chung EK, Zhou B, Kitzmiller KJ, Savelli SL, Nagaraja HN, Birmingham DJ, Tsao BP, Rovin BH, Hebert LA, Yu CY. Wu YL, et al. Cytogenet Genome Res. 2008;123(1-4):131-41. doi: 10.1159/000184700. Epub 2009 Mar 11. Cytogenet Genome Res. 2008. PMID: 19287147 Free PMC article. Review.
In this review we describe the phenotypic and genotypic diversities of complement C4 created by copy number variations of RCCX modules (RP-C4-CYP21-TNX) and size dichotomy of C4 genes. ...This decrease in total C4 gene copy number in SLE is due to increases in homozygous a …
In this review we describe the phenotypic and genotypic diversities of complement C4 created by copy number variations of RCCX module …
Complement 4 phenotypes and genotypes in Brazilian patients with classical 21-hydroxylase deficiency.
Guerra-Junior G, Grumach AS, de Lemos-Marini SH, Kirschfink M, Condino Neto A, de Araujo M, De Mello MP. Guerra-Junior G, et al. Clin Exp Immunol. 2009 Feb;155(2):182-8. doi: 10.1111/j.1365-2249.2008.03838.x. Clin Exp Immunol. 2009. PMID: 19137635 Free PMC article.
The aim of this work was to analyse C4 genotypes, C4 protein levels, phenotypes and genotypes in patients with the classical form of 21-hydroxylase deficiency. Fifty-four patients from 46 families (36 female, 18 male; mean age 10.8 years) with different clinical manifestat …
The aim of this work was to analyse C4 genotypes, C4 protein levels, phenotypes and genotypes in patients with the classical form of 21-hydr …
Evaluation of the relationship between protein S and C4b-binding protein isoforms in hereditary protein S deficiency demonstrating type I and type III deficiencies to be phenotypic variants of the same genetic disease.
Zöller B, García de Frutos P, Dahlbäck B. Zöller B, et al. Blood. 1995 Jun 15;85(12):3524-31. Blood. 1995. PMID: 7780139 Free article.
In contrast, both free and total protein S levels are low in type I deficiency. To elucidate the molecular mechanism behind the selective deficiency of free protein S in type III deficiency, the relationship between the plasma concentrations of beta-chain con …
In contrast, both free and total protein S levels are low in type I deficiency. To elucidate the molecular mechanism behind the selec …
Extended MHC haplotypes in 21-hydroxylase-deficiency congenital adrenal hyperplasia: shared genotypes in unrelated patients.
Fleischnick E, Awdeh ZL, Raum D, Granados J, Alosco SM, Crigler JF Jr, Gerald PS, Giles CM, Yunis EJ, Alper CA. Fleischnick E, et al. Lancet. 1983 Jan 22;1(8317):152-6. doi: 10.1016/s0140-6736(83)92757-5. Lancet. 1983. PMID: 6130199
HLA, complement, and glyoxalase I alleles were studied in 29 families in which at least one member has classical 21-hydroxylase-deficiency congenital adrenal hyperplasia. A rare complement allele, C4B*31, was found in over 20% of the haplotypes defined …
HLA, complement, and glyoxalase I alleles were studied in 29 families in which at least one member has classical 21-hydroxylase-de …