1 | C4A, C4B
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| Gene Copy-Number Variation and Associated Polymorphisms of Complement Component C4 in Human Systemic Lupus Erythematosus (SLE): Low Copy Number Is a Risk Factor for and High Copy Number Is a Protective Factor against SLE Susceptibility in European Americans.
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| Yang Y, Chung EK, Wu YL, Savelli SL, Nagaraja HN, Zhou B, Hebert M, Jones KN, Shu Y, Kitzmiller K, Blanchong CA, McBride KL, Higgins GC, Rennebohm RM, Rice RR, Hackshaw KV, Roubey RA, Grossman JM, Tsao BP, Birmingham DJ, Rovin BH, Hebert LA, Yu CY.
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| Am J Hum Genet 80(6):1037-54. Epub 2007 Apr 26. 2007
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2 | C4A, C4B
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| Characterization of a de novo conversion in human complement C4 gene producing a C4B5-like protein.
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| Jaatinen T, Eholuoto M, Laitinen T, Lokki ML.
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| J Immunol 168(11):5652-8. 2002
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3 | C4A,C4B, CYP21A2, CYP21A1P
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| High variability of CYP21 gene rearrangements in Spanish patients with classic form of congenital adrenal hyperplasia.
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| Lobato MN, Aledo R, Meseguer A.
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| Hum Hered 48 : 216-225. 1998
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4 | CYP21A2, C4A, C4B
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| Visual demonstration of the organization of the human complement C4 and 21-hydroxylase genes by high-resolution fluorescence in situ hybridization.
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| Suto Y, Tokunaga K, Watanabe Y, Hirai M.
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| Genomics 33 : 321-324. 1996
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5 | C4A, C4B, TNXA, TNXB
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| A promoter within intron 35 of the human C4A gene initiates abundant adrenal-specific transcription of a 1 kb RNA : location of a cryptic CYP21 promoter element ?
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| Tee MK, et al.
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| Hum Mol Genet 4 : 2109-2116. 1995
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6 | C4A
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| Population and family studies of three disease-related polymorphic genes in systemic lupus erythematosus.
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| Huang DF, et al.
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| J Clin Invest 95 : 1766-1772. 1995
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7 | C4A, RG
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| Genetic basis of human complement C4A deficiency. Detection of a point mutation leading to nonexpression.
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| Barba G, et al.
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| J Clin Invest 91 : 1681-1686. 1993
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8 | C4A, C4B
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| Complement component C4 deficiencies and gene alterations in patients with systemic lupus erythematosus.
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| Fan Q, et al.
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| Eur J Immunogenet 20 : 11-21. 1993
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9 | C4A, C4B, CYP21A2
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| A rare TaqI polymorphism in a human complement C4 gene is caused by an additional restriction site in the first intron.
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| Koppens PF, Hoogenboezem T, Degenhart HJ.
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| Immunol Lett 34 : 93-97. 1992
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10 | C4A
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| TaqI RFLP polymorphism of the ovine complement component C4 gene.
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| Groth DM, et al.
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| Nucleic Acids Res 18 : 3102. 1990
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11 | C4A
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| Homozygous C4A deficiency in systemic lupus erythematosus: analysis of patients from a defined population.
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| Sturfelt G, et al.
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| Clin Genet 38 : 427-433. 1990
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12 | C4B, C4A
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| Uniparental isodisomy 6 associated with deficiency of the fourth component of complement.
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| Welch TR, et al.
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| J Clin Invest 86 : 675-678. 1990
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13 | C4A, C4B
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| Restriction fragment length polymorphisms of the complement component C4 loci on chromosome 6: studies with emphasis on the determination of gene number.
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| Teisberg P, et al.
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| Ann Hum Genet 52 : 77-84. 1988
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14 | C4A, C4B
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| Heterogeneity of human C4 gene size. A large intron (6.5kb) is present in all C4A genes and some C4B genes.
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| Palsdottir A, et al.
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| Immunogenetics 25 : 299-304. 1987
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15 | C4A
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| BgIII polymorphic site upstream to the human complement component C4A gene.
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| Palsdottir A, et al.
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| Nucleic Acids Res 15 : 2395. 1987
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16 | C4A, C4B
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| Definitive RFLPs to distinguish between the human complement C4A/C4B isotypes and the major Rodgers/Chido determinants : application to the study of C4 null alleles.
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| Yu CY, et al.
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| Immunogenetics 25 : 383-390. 1987
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17 | C4A
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| A frequent polymorphism of the complement component C4 gene.
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| Goldstein R, et al.
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| Nucleic Acids Res 14 : 5570. 1986
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18 | CFB, C2, C4A, C4B, CYP21A2
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| A molecular map of the human major histocompatibility complex class III region linking complement genes C4, C2 and factor B.
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| Carroll MC, Campbell RD, Bentley DR, Porter RR.
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| Nature 307 : 237-241. 1984
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19 | CFB, C2, C4A, C4B
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| Gene order and gene distances in the HLA region studied by the haplotype method.
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| Olaisen B, et al.
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| Ann Hum Genet 47 : 285-292. 1983
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20 | C4A
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| Gametic associations of the HLA linked genes: BF, C2, C4S, C4F, glyoxalase I, and 21-hydroxylase deficiency.
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| O'Neill GJ, et al.
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| Cytogenet Cell Genet 25 : 195. 1979
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21 | C4A, C4B
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| Two HLA linked loci controlling the fourth component of complement.
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| O'Neill GJ, et al.
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| Proc Natl Acad Sci U S A 75 : 5165-5169. 1978
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22 | C4A, C4B, CHD
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| Genetic polymorphism of C4 in man and localization of a structural C4 locus to the HLA gene complex of chromosome 6.
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| Teisberg P, et al.
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| Nature 264 : 253-254. 1976
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23 | C4A, C4B
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| Rodgers blood group and the HLA region.
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| Gedde-Dahl T, et al.
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| Cytogenet Cell Genet 16 : 311-312. 1976
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