메뉴 건너뛰기




Volumn 34, Issue 1, 2013, Pages 1-13

Correlating Multiallelic Copy Number Polymorphisms with Disease Susceptibility

Author keywords

Complex disease; Copy number variation; Integer copy number; Multiallelic CNPs

Indexed keywords

BETA DEFENSIN; CHEMOKINE; CHEMOKINE LIGAND 3 LIKE 1; COMPLEMENT COMPONENT C4; FC GAMMA RECEPTOR 3B; FC RECEPTOR; UNCLASSIFIED DRUG;

EID: 84871618643     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22172     Document Type: Review
Times cited : (45)

References (124)
  • 4
    • 79954672317 scopus 로고    scopus 로고
    • Genome structural variation discovery and genotyping
    • Alkan C, Coe BP, Eichler EE. 2011a. Genome structural variation discovery and genotyping. Nat Rev Genet 12:363-376.
    • (2011) Nat Rev Genet , vol.12 , pp. 363-376
    • Alkan, C.1    Coe, B.P.2    Eichler, E.E.3
  • 6
    • 78650909427 scopus 로고    scopus 로고
    • Limitations of next-generation genome sequence assembly
    • Alkan C, Sajjadian S, Eichler EE. 2011b. Limitations of next-generation genome sequence assembly. Nat Methods 8:61-65.
    • (2011) Nat Methods , vol.8 , pp. 61-65
    • Alkan, C.1    Sajjadian, S.2    Eichler, E.E.3
  • 8
    • 0034650292 scopus 로고    scopus 로고
    • Measurement of locus copy number by hybridisation with amplifiable probes
    • Armour JAL, Sismani C, Patsalis PC, Cross G. 2000. Measurement of locus copy number by hybridisation with amplifiable probes. Nucleic Acids Res 28:605-609.
    • (2000) Nucleic Acids Res , vol.28 , pp. 605-609
    • Armour, J.A.L.1    Sismani, C.2    Patsalis, P.C.3    Cross, G.4
  • 13
    • 84862776696 scopus 로고    scopus 로고
    • Genetically determined partial complement C4 deficiency states are not independent risk factors for SLE in UK and Spanish populations
    • Boteva L, Morris David L, Cortés-Hernández J, Martin J, Vyse Timothy J, Fernando Michelle MA. 2012. Genetically determined partial complement C4 deficiency states are not independent risk factors for SLE in UK and Spanish populations. Am J Hum Genet 90:445-456.
    • (2012) Am J Hum Genet , vol.90 , pp. 445-456
    • Boteva, L.1    Morris David, L.2    Cortés-Hernández, J.3    Martin, J.4    Vyse Timothy, J.5    Fernando Michelle, M.A.6
  • 18
    • 80051788075 scopus 로고    scopus 로고
    • Accuracy and differential bias in copy number measurement of CCL3L1 in association studies with three auto-immune disorders
    • Carpenter D, Walker S, Prescott N, Schalkwijk J, Armour J. 2011. Accuracy and differential bias in copy number measurement of CCL3L1 in association studies with three auto-immune disorders. BMC Genomics 12:418.
    • (2011) BMC Genomics , vol.12 , pp. 418
    • Carpenter, D.1    Walker, S.2    Prescott, N.3    Schalkwijk, J.4    Armour, J.5
  • 23
    • 80054721188 scopus 로고    scopus 로고
    • Detection of copy number variation using SNP genotyping
    • Cooper GM, Mefford H. 2011. Detection of copy number variation using SNP genotyping. Methods Mol Biol 767:243-252.
    • (2011) Methods Mol Biol , vol.767 , pp. 243-252
    • Cooper, G.M.1    Mefford, H.2
  • 24
    • 52949093111 scopus 로고    scopus 로고
    • Systematic assessment of copy number variant detection via genome-wide SNP genotyping
    • Cooper GM, Zerr T, Kidd JM, Eichler EE, Nickerson DA. 2008. Systematic assessment of copy number variant detection via genome-wide SNP genotyping. Nat Genet 40:1199-1203.
    • (2008) Nat Genet , vol.40 , pp. 1199-1203
    • Cooper, G.M.1    Zerr, T.2    Kidd, J.M.3    Eichler, E.E.4    Nickerson, D.A.5
  • 25
    • 59749090025 scopus 로고    scopus 로고
    • Sample degradation leads to false-positive copy number variation calls in multiplex real-time polymerase chain reaction assays
    • Cukier HN, Pericak-Vance MA, Gilbert JR, Hedges DJ. 2009. Sample degradation leads to false-positive copy number variation calls in multiplex real-time polymerase chain reaction assays. Anal Biochem 386:288-290.
    • (2009) Anal Biochem , vol.386 , pp. 288-290
    • Cukier, H.N.1    Pericak-Vance, M.A.2    Gilbert, J.R.3    Hedges, D.J.4
  • 27
    • 84871618027 scopus 로고
    • Application of pulsed-field gel electrophoresis to genetic diagnosis
    • den Dunnen JT, Ommen G-JB, Mathew CG. 1992. Application of pulsed-field gel electrophoresis to genetic diagnosis. Methods Mol Biol 9:313-325.
    • (1992) Methods Mol Biol , vol.9 , pp. 313-325
    • den Dunnen, J.T.1    Ommen, G.-J.2    Mathew, C.G.3
  • 30
    • 62549086059 scopus 로고    scopus 로고
    • Copy number variation of Fc gamma receptor genes and disease predisposition
    • Fanciulli M, Vyse TJ, Aitman TJ. 2008. Copy number variation of Fc gamma receptor genes and disease predisposition. Cytogenet Genome Res 123:161-168.
    • (2008) Cytogenet Genome Res , vol.123 , pp. 161-168
    • Fanciulli, M.1    Vyse, T.J.2    Aitman, T.J.3
  • 37
    • 80755187820 scopus 로고    scopus 로고
    • Human copy number variation and complex genetic disease
    • Girirajan S, Campbell CD, Eichler EE. 2011. Human copy number variation and complex genetic disease. Annu Rev Genet 45:203-226.
    • (2011) Annu Rev Genet , vol.45 , pp. 203-226
    • Girirajan, S.1    Campbell, C.D.2    Eichler, E.E.3
  • 44
    • 0016188451 scopus 로고
    • Lupus erythematosus syndrome and complete deficiency of the fourth component of complement
    • Hauptmann G, Grosshans E, Heid E. 1974. Lupus erythematosus syndrome and complete deficiency of the fourth component of complement. Boll Ist Sieroter Milan Suppl 53:228.
    • (1974) Boll Ist Sieroter Milan Suppl , vol.53 , pp. 228
    • Hauptmann, G.1    Grosshans, E.2    Heid, E.3
  • 46
    • 29444450702 scopus 로고    scopus 로고
    • Common deletions and SNPs are in linkage disequilibrium in the human genome
    • Hinds DA, Kloek AP, Jen M, Chen X, Frazer KA. 2006. Common deletions and SNPs are in linkage disequilibrium in the human genome. Nat Genet 38:82-85.
    • (2006) Nat Genet , vol.38 , pp. 82-85
    • Hinds, D.A.1    Kloek, A.P.2    Jen, M.3    Chen, X.4    Frazer, K.A.5
  • 47
    • 34247217272 scopus 로고    scopus 로고
    • Real-time quantitative PCR as an alternative to southern blot or fluorescence insitu hybridization for detection of gene copy number changes
    • Hoebeeck J, Speleman F, Vandesompele J, Hilario E, Mackay J. 2007. Real-time quantitative PCR as an alternative to southern blot or fluorescence insitu hybridization for detection of gene copy number changes. Methods Mol Biol 353:205-226.
    • (2007) Methods Mol Biol , vol.353 , pp. 205-226
    • Hoebeeck, J.1    Speleman, F.2    Vandesompele, J.3    Hilario, E.4    Mackay, J.5
  • 48
    • 62549137023 scopus 로고    scopus 로고
    • Copy number variation of beta-defensins and relevance to disease
    • Hollox EJ. 2008. Copy number variation of beta-defensins and relevance to disease. Cytogenet Genome Res 123:148-155.
    • (2008) Cytogenet Genome Res , vol.123 , pp. 148-155
    • Hollox, E.J.1
  • 49
    • 0042387792 scopus 로고    scopus 로고
    • Extensive normal copy number variation of a beta-defensin antimicrobial-gene cluster
    • Hollox EJ, Armour JAL, Barber JCK. 2003. Extensive normal copy number variation of a beta-defensin antimicrobial-gene cluster. Am J Hum Genet 73:591-600.
    • (2003) Am J Hum Genet , vol.73 , pp. 591-600
    • Hollox, E.J.1    Armour, J.A.L.2    Barber, J.C.K.3
  • 51
    • 61649092570 scopus 로고    scopus 로고
    • An integrated approach for measuring copy number variation at the FCGR3 (CD16) locus
    • Hollox EJ, Detering J-C, Dehnugara T. 2009. An integrated approach for measuring copy number variation at the FCGR3 (CD16) locus. Hum Mutat 30:477-484.
    • (2009) Hum Mutat , vol.30 , pp. 477-484
    • Hollox, E.J.1    Detering, J.-C.2    Dehnugara, T.3
  • 53
    • 33749123246 scopus 로고    scopus 로고
    • A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration
    • Hughes AE, Orr N, Esfandiary H, Diaz-Torres M, Goodship T, Chakravarthy U. 2006. A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration. Nat Genet 38:1173-1177.
    • (2006) Nat Genet , vol.38 , pp. 1173-1177
    • Hughes, A.E.1    Orr, N.2    Esfandiary, H.3    Diaz-Torres, M.4    Goodship, T.5    Chakravarthy, U.6
  • 54
    • 15444370412 scopus 로고    scopus 로고
    • MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls
    • Janssen B, Hartmann C, Scholz V, Jauch A, Zschocke J. 2005. MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls. Neurogenetics 6:29-35.
    • (2005) Neurogenetics , vol.6 , pp. 29-35
    • Janssen, B.1    Hartmann, C.2    Scholz, V.3    Jauch, A.4    Zschocke, J.5
  • 56
    • 27144433191 scopus 로고    scopus 로고
    • The 158V polymorphism of Fc gamma receptor type IIIA in early rheumatoid arthritis: increased susceptibility and severity in male patients (the Swedish TIRA project)
    • Kastbom A, Ahmadi A, Soderkvist P, Skogh T. 2005. The 158V polymorphism of Fc gamma receptor type IIIA in early rheumatoid arthritis: increased susceptibility and severity in male patients (the Swedish TIRA project). Rheumatology 44:1294-1298.
    • (2005) Rheumatology , vol.44 , pp. 1294-1298
    • Kastbom, A.1    Ahmadi, A.2    Soderkvist, P.3    Skogh, T.4
  • 57
    • 57149099396 scopus 로고    scopus 로고
    • Analysis of copy number variants and segmental duplications in the human genome: evidence for a change in the process of formation in recent evolutionary history
    • Kim PM, Lam HYK, Urban AE, Korbel JO, Affourtit J, Grubert F, Chen X, Weissman S, Snyder M, Gerstein MB. 2008. Analysis of copy number variants and segmental duplications in the human genome: evidence for a change in the process of formation in recent evolutionary history. Genome Res 18:1865-1874.
    • (2008) Genome Res , vol.18 , pp. 1865-1874
    • Kim, P.M.1    Lam, H.Y.K.2    Urban, A.E.3    Korbel, J.O.4    Affourtit, J.5    Grubert, F.6    Chen, X.7    Weissman, S.8    Snyder, M.9    Gerstein, M.B.10
  • 61
    • 81155159768 scopus 로고    scopus 로고
    • Copy number variation of CCL3L1 influences asthma risk by modulating IL-10 expression
    • Lee H, Bae S, Choi BW, Choi JC, Yoon Y. 2011. Copy number variation of CCL3L1 influences asthma risk by modulating IL-10 expression. Clin Chim Acta 412:2100-2104.
    • (2011) Clin Chim Acta , vol.412 , pp. 2100-2104
    • Lee, H.1    Bae, S.2    Choi, B.W.3    Choi, J.C.4    Yoon, Y.5
  • 62
    • 84859842326 scopus 로고    scopus 로고
    • Copy number variation in CCL3L1 gene is associated with susceptibility to acute rejection in patients after liver transplantation
    • Li H, Xie H-Y, Zhou L, Feng X-W, Wang W-L, Liang T-B, Zhang M, Zheng S-S. 2011. Copy number variation in CCL3L1 gene is associated with susceptibility to acute rejection in patients after liver transplantation. Clin Transplant 26:314-321.
    • (2011) Clin Transplant , vol.26 , pp. 314-321
    • Li, H.1    Xie, H.-Y.2    Zhou, L.3    Feng, X.-W.4    Wang, W.-L.5    Liang, T.-B.6    Zhang, M.7    Zheng, S.-S.8
  • 63
    • 29144457296 scopus 로고    scopus 로고
    • Human defensin gene copy number polymorphisms: comprehensive analysis of independent variation in alpha and beta defensin regions at 8p22-p23
    • Linzmeier RM, Ganz T. 2005. Human defensin gene copy number polymorphisms: comprehensive analysis of independent variation in alpha and beta defensin regions at 8p22-p23. Genomics 86:423-430.
    • (2005) Genomics , vol.86 , pp. 423-430
    • Linzmeier, R.M.1    Ganz, T.2
  • 65
    • 84871622187 scopus 로고    scopus 로고
    • Confirmation of C4 gene copy number variation and the association with systemic lupus erythematosus in Chinese Han population
    • Epub ahead of print].
    • Lv Y, He S, Zhang Z, Li Y, Hu D, Zhu K, Cheng H, Zhou F, Chen G, Zheng X, Li P, Ren Y, et al. 2011. Confirmation of C4 gene copy number variation and the association with systemic lupus erythematosus in Chinese Han population. Rheumatol Int:1-7 [Epub ahead of print].
    • (2011) Rheumatol Int , pp. 1-7
    • Lv, Y.1    He, S.2    Zhang, Z.3    Li, Y.4    Hu, D.5    Zhu, K.6    Cheng, H.7    Zhou, F.8    Chen, G.9    Zheng, X.10    Li, P.11    Ren, Y.12
  • 66
    • 76049108424 scopus 로고    scopus 로고
    • FCGR3B copy number variation is not associated with lupus nephritis in a Chinese population
    • Lv J, Yang Y, Zhou X, Yu L, Li R, Hou P, Zhang H. 2010. FCGR3B copy number variation is not associated with lupus nephritis in a Chinese population. Lupus 19:158-161.
    • (2010) Lupus , vol.19 , pp. 158-161
    • Lv, J.1    Yang, Y.2    Zhou, X.3    Yu, L.4    Li, R.5    Hou, P.6    Zhang, H.7
  • 67
    • 84862119571 scopus 로고    scopus 로고
    • Evolutionary history of copy-number-variable locus for the low-affinity fcγ receptor: mutation rate, autoimmune disease, and the legacy of Helminth infection
    • Machado Lee R, Hardwick Robert J, Bowdrey J, Bogle H, Knowles Timothy J, Sironi M, Hollox Edward J. 2012. Evolutionary history of copy-number-variable locus for the low-affinity fcγ receptor: mutation rate, autoimmune disease, and the legacy of Helminth infection. Am J Hum Genet 90:973-985.
    • (2012) Am J Hum Genet , vol.90 , pp. 973-985
    • Machado Lee, R.1    Hardwick Robert, J.2    Bowdrey, J.3    Bogle, H.4    Knowles Timothy, J.5    Sironi, M.6    Hollox Edward, J.7
  • 68
    • 77649338622 scopus 로고    scopus 로고
    • Association of Copy Number Variation in the FCGR3B gene with risk of autoimmune diseases
    • Mamtani M, Anaya JM, He W, Ahuja SK. 2010. Association of Copy Number Variation in the FCGR3B gene with risk of autoimmune diseases. Genes Immun 11:155-160.
    • (2010) Genes Immun , vol.11 , pp. 155-160
    • Mamtani, M.1    Anaya, J.M.2    He, W.3    Ahuja, S.K.4
  • 72
    • 37549021474 scopus 로고    scopus 로고
    • Copy-number analysis goes more than skin deep
    • McCarroll SA. 2008. Copy-number analysis goes more than skin deep. Nat Genet 40:5-6.
    • (2008) Nat Genet , vol.40 , pp. 5-6
    • McCarroll, S.A.1
  • 73
    • 34347353237 scopus 로고    scopus 로고
    • Copy-number variation and association studies of human disease
    • McCarroll SA, Altshuler DM. 2007. Copy-number variation and association studies of human disease. Nat Genet 39:S37-S42.
    • (2007) Nat Genet , vol.39
    • McCarroll, S.A.1    Altshuler, D.M.2
  • 78
    • 84860478777 scopus 로고    scopus 로고
    • Meta-analysis confirms a role for deletion in FCGR3B in autoimmune phenotypes
    • McKinney C, Merriman TR. 2012. Meta-analysis confirms a role for deletion in FCGR3B in autoimmune phenotypes. Hum Mol Genet 21:2370-2376.
    • (2012) Hum Mol Genet , vol.21 , pp. 2370-2376
    • McKinney, C.1    Merriman, T.R.2
  • 80
    • 33745608710 scopus 로고    scopus 로고
    • Reduced ability of newborns to produce CCL3 is associated with increased susceptibility to perinatal human immunodeficiency virus 1 transmission
    • Meddows-Taylor S, Donninger SL, Paximadis M, Schramm DB, Anthony FS, Gray GE, Kuhn L, Tiemessen CT. 2006. Reduced ability of newborns to produce CCL3 is associated with increased susceptibility to perinatal human immunodeficiency virus 1 transmission. J Gen Virol 87:2055-2065.
    • (2006) J Gen Virol , vol.87 , pp. 2055-2065
    • Meddows-Taylor, S.1    Donninger, S.L.2    Paximadis, M.3    Schramm, D.B.4    Anthony, F.S.5    Gray, G.E.6    Kuhn, L.7    Tiemessen, C.T.8
  • 81
    • 0036827004 scopus 로고    scopus 로고
    • The F158V polymorphism in FCGRIIIA shows disparate associations with rheumatoid arthritis in two genetically distinct populations
    • Milicic A, Misra R, Agrawal S, Aggarwal A, Brown MA, Wordsworth BP. 2002. The F158V polymorphism in FCGRIIIA shows disparate associations with rheumatoid arthritis in two genetically distinct populations. Ann Rheum Dis 61:1021-1023.
    • (2002) Ann Rheum Dis , vol.61 , pp. 1021-1023
    • Milicic, A.1    Misra, R.2    Agrawal, S.3    Aggarwal, A.4    Brown, M.A.5    Wordsworth, B.P.6
  • 87
    • 35348847181 scopus 로고    scopus 로고
    • Copy number variations of CCL3L1 and long-term prognosis of HIV-1 infection in asymptomatic HIV-infected Japanese with hemophilia
    • Nakajima T, Ohtani H, Naruse T, Shibata H, Mimaya J-I, Terunuma H, Kimura A. 2007. Copy number variations of CCL3L1 and long-term prognosis of HIV-1 infection in asymptomatic HIV-infected Japanese with hemophilia. Immunogenetics 59:793-798.
    • (2007) Immunogenetics , vol.59 , pp. 793-798
    • Nakajima, T.1    Ohtani, H.2    Naruse, T.3    Shibata, H.4    Mimaya, J.-I.5    Terunuma, H.6    Kimura, A.7
  • 91
    • 77953363607 scopus 로고    scopus 로고
    • Comparison of multiplex ligation-dependant probe amplification and real time PCR accuracy for gene copy number quantification using the beta defensin locus
    • Perne A, Zhang X, Lehmann LE, Groth M, Stuber F, Book M. 2009. Comparison of multiplex ligation-dependant probe amplification and real time PCR accuracy for gene copy number quantification using the beta defensin locus. Biotechniques 47:1023-1026.
    • (2009) Biotechniques , vol.47 , pp. 1023-1026
    • Perne, A.1    Zhang, X.2    Lehmann, L.E.3    Groth, M.4    Stuber, F.5    Book, M.6
  • 95
    • 65249130525 scopus 로고    scopus 로고
    • Association tests and software for copy number variant data
    • Plagnol V. 2009. Association tests and software for copy number variant data. Hum Genomics 3:191-194.
    • (2009) Hum Genomics , vol.3 , pp. 191-194
    • Plagnol, V.1
  • 101
    • 72649089957 scopus 로고    scopus 로고
    • Lower linkage disequilibrium at CNVs is due to both recurrent mutation and transposing duplications
    • Schrider DR, Hahn MW. 2010. Lower linkage disequilibrium at CNVs is due to both recurrent mutation and transposing duplications. Mol Biol Evol 27:103-111.
    • (2010) Mol Biol Evol , vol.27 , pp. 103-111
    • Schrider, D.R.1    Hahn, M.W.2
  • 103
    • 34247608805 scopus 로고    scopus 로고
    • CCL3L1 and CCL4L1: variable gene copy number in adolescents with and without human immunodeficiency virus type 1 (HIV-1) infection
    • Shao W, Tang J, Song W, Wang C, Li Y, Wilson CM, Kaslow RA. 2007. CCL3L1 and CCL4L1: variable gene copy number in adolescents with and without human immunodeficiency virus type 1 (HIV-1) infection. Genes Immun 8:224-231.
    • (2007) Genes Immun , vol.8 , pp. 224-231
    • Shao, W.1    Tang, J.2    Song, W.3    Wang, C.4    Li, Y.5    Wilson, C.M.6    Kaslow, R.A.7
  • 111
    • 77950405093 scopus 로고    scopus 로고
    • Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls
    • The Wellcome Trust Case Control Consortium
    • The Wellcome Trust Case Control Consortium. 2010. Genome-wide association study of CNVs in 16, 000 cases of eight common diseases and 3, 000 shared controls. Nature 464:713-720.
    • (2010) Nature , vol.464 , pp. 713-720
  • 113
    • 0020536835 scopus 로고
    • Low serum C4 concentrations in insulin dependent diabetes mellitus
    • Uko G, Christiansen F, Dawkins R, Kay P. 1983. Low serum C4 concentrations in insulin dependent diabetes mellitus. Br Med J 286:1748-1749.
    • (1983) Br Med J , vol.286 , pp. 1748-1749
    • Uko, G.1    Christiansen, F.2    Dawkins, R.3    Kay, P.4
  • 115
    • 0020672586 scopus 로고
    • Low serum C4 concentrations: an inherited predisposition to insulin dependant diabetes
    • Vergani D, Johnston C, Abdullah N, Barnett A. 1983. Low serum C4 concentrations: an inherited predisposition to insulin dependant diabetes? Br Med J 286:926-928.
    • (1983) Br Med J , vol.286 , pp. 926-928
    • Vergani, D.1    Johnston, C.2    Abdullah, N.3    Barnett, A.4
  • 116
    • 57049140413 scopus 로고    scopus 로고
    • Multiplex paralogue ratio tests for accurate measurement of multiallelic CNVs
    • Walker S, Janyakhantikul S, Armour JAL. 2009. Multiplex paralogue ratio tests for accurate measurement of multiallelic CNVs. Genomics 93:98-103.
    • (2009) Genomics , vol.93 , pp. 98-103
    • Walker, S.1    Janyakhantikul, S.2    Armour, J.A.L.3
  • 117
    • 16644383298 scopus 로고    scopus 로고
    • Detecting copy number changes in genomic DNA: MAPH and MLPA
    • White SJ, Breuning MH, den Dunnen JT. 2004. Detecting copy number changes in genomic DNA: MAPH and MLPA. Methods Mol Biol 75:751-768.
    • (2004) Methods Mol Biol , vol.75 , pp. 751-768
    • White, S.J.1    Breuning, M.H.2    den Dunnen, J.T.3
  • 119
    • 58149163142 scopus 로고    scopus 로고
    • Six new loci associated with body mass index highlight a neuronal influence on body weight regulation
    • Willer C. 2009. Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Nat Genet 41:25-34.
    • (2009) Nat Genet , vol.41 , pp. 25-34
    • Willer, C.1
  • 120
    • 67849099265 scopus 로고    scopus 로고
    • Molecular basis of complete complement C4 deficiency in two North-African families with systemic lupus erythematosus
    • Wu YL, Hauptmann G, Viguier M, Yu CY. 2009. Molecular basis of complete complement C4 deficiency in two North-African families with systemic lupus erythematosus. Genes Immun 10:433-445.
    • (2009) Genes Immun , vol.10 , pp. 433-445
    • Wu, Y.L.1    Hauptmann, G.2    Viguier, M.3    Yu, C.Y.4
  • 121
    • 38449101999 scopus 로고    scopus 로고
    • Sensitive and specific real-time polymerase chain reaction assays to accurately determine copy number variations (CNVs) of human complement C4A, C4B, C4-long, C4-short, and RCCX modules: elucidation of C4 CNVs in 50 consanguineous subjects with defined HLA genotypes
    • Wu YL, Savelli SL, Yang Y, Zhou B, Rovin BH, Birmingham DJ, Nagaraja HN, Hebert LA, Yu CY. 2007. Sensitive and specific real-time polymerase chain reaction assays to accurately determine copy number variations (CNVs) of human complement C4A, C4B, C4-long, C4-short, and RCCX modules: elucidation of C4 CNVs in 50 consanguineous subjects with defined HLA genotypes. J Immunol 179:3012-3025.
    • (2007) J Immunol , vol.179 , pp. 3012-3025
    • Wu, Y.L.1    Savelli, S.L.2    Yang, Y.3    Zhou, B.4    Rovin, B.H.5    Birmingham, D.J.6    Nagaraja, H.N.7    Hebert, L.A.8    Yu, C.Y.9
  • 123
    • 34250841166 scopus 로고    scopus 로고
    • 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
    • Yang Y, Chung EK, Wu YL, Savelli SL, Nagaraja HN, Zhou B, Hebert M, Jones KN, Shu YL, Kitzmiller K, Blanchong CA, McBride KL, et al. 2007. 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. Am J Hum Genet 80:1037-1054.
    • (2007) Am J Hum Genet , vol.80 , pp. 1037-1054
    • Yang, Y.1    Chung, E.K.2    Wu, Y.L.3    Savelli, S.L.4    Nagaraja, H.N.5    Zhou, B.6    Hebert, M.7    Jones, K.N.8    Shu, Y.L.9    Kitzmiller, K.10    Blanchong, C.A.11    McBride, K.L.12
  • 124
    • 70350694443 scopus 로고    scopus 로고
    • Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads
    • Ye K, Schulz MH, Long Q, Apweiler R, Ning Z. 2009. Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads. Bioinformatics 25:2865-2871.
    • (2009) Bioinformatics , vol.25 , pp. 2865-2871
    • Ye, K.1    Schulz, M.H.2    Long, Q.3    Apweiler, R.4    Ning, Z.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.