메뉴 건너뛰기




Volumn 91, Issue 1, 1998, Pages 252-257

Somatic triple mosaicism in a carrier of X-linked chronic granulomatous disease

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CHROMOSOME MOSAICISM; DNA DETERMINATION; EMBRYO DEVELOPMENT; ENZYME ACTIVITY; EXON; GENE DELETION; GENE MUTATION; GRANULOMATOSIS; HUMAN; HUMAN CELL; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; X CHROMOSOME LINKED DISORDER;

EID: 0031985451     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v91.1.252.252_252_257     Document Type: Article
Times cited : (10)

References (26)
  • 2
    • 0016391727 scopus 로고
    • Defective superoxide production by granulocytes from patients with chronic granulomatous disease
    • Curnutte JT, Whitten DM, Babior BM: Defective superoxide production by granulocytes from patients with chronic granulomatous disease. N Engl J Med 290:593, 1974
    • (1974) N Engl J Med , vol.290 , pp. 593
    • Curnutte, J.T.1    Whitten, D.M.2    Babior, B.M.3
  • 3
    • 0023175462 scopus 로고
    • -245 subunits from neutrophils in X-linked chronic granulomatous disease
    • -245 subunits from neutrophils in X-linked chronic granulomatous disease. Nature 326:88, 1987
    • (1987) Nature , vol.326 , pp. 88
    • Segal, A.W.1
  • 4
    • 0023483148 scopus 로고
    • Purified cytochrome b from human granulocyte plasma membrane is comprised of two polypeptides with relative molecular weights of 91,000 and 22,000
    • Parkos CA, Allen RA, Cochrane CG, Jesaitis AJ: Purified cytochrome b from human granulocyte plasma membrane is comprised of two polypeptides with relative molecular weights of 91,000 and 22,000. J Clin Invest 80:732, 1987
    • (1987) J Clin Invest , vol.80 , pp. 732
    • Parkos, C.A.1    Allen, R.A.2    Cochrane, C.G.3    Jesaitis, A.J.4
  • 7
    • 0027787417 scopus 로고
    • P40-phox, a third cytosolic component of the activation complex of the NADPH oxidase to contain src homology 3 domains
    • Wientjes FB, Hsuan JJ, Totty NF, Segal AW: P40-phox, a third cytosolic component of the activation complex of the NADPH oxidase to contain src homology 3 domains. Biochem J 296:557, 1993
    • (1993) Biochem J , vol.296 , pp. 557
    • Wientjes, F.B.1    Hsuan, J.J.2    Totty, N.F.3    Segal, A.W.4
  • 8
    • 0025944684 scopus 로고
    • Activation of the NADPH oxidase involves the small GTP-binding protein p21rac1
    • Abo A, Pick E, Hall A, Totty N, Teahan CG, Segal AW: Activation of the NADPH oxidase involves the small GTP-binding protein p21rac1. Nature 353:668, 1991
    • (1991) Nature , vol.353 , pp. 668
    • Abo, A.1    Pick, E.2    Hall, A.3    Totty, N.4    Teahan, C.G.5    Segal, A.W.6
  • 9
    • 0026335622 scopus 로고
    • Regulation of phagocyte oxygen radical production by the GTP-binding protein Rac 2
    • Knaus UG, Heyworth PG, Evans T, Curnutte JT, Bokoch GM: Regulation of phagocyte oxygen radical production by the GTP-binding protein Rac 2. Science 254:1512, 1991
    • (1991) Science , vol.254 , pp. 1512
    • Knaus, U.G.1    Heyworth, P.G.2    Evans, T.3    Curnutte, J.T.4    Bokoch, G.M.5
  • 10
    • 0028175879 scopus 로고
    • Activated or dominant inhibitory mutants of Rap1A decrease the oxidative burst of Epstein-Barr virus-transformed human B lymphocytes
    • Maly F-E, Quilliam LA, Dorseuil O, Der CJ, Bokoch GM: Activated or dominant inhibitory mutants of Rap1A decrease the oxidative burst of Epstein-Barr virus-transformed human B lymphocytes. J Biol Chem 269:18743, 1994
    • (1994) J Biol Chem , vol.269 , pp. 18743
    • Maly, F.-E.1    Quilliam, L.A.2    Dorseuil, O.3    Der, C.J.4    Bokoch, G.M.5
  • 12
    • 0023251352 scopus 로고
    • The glycoprotein encoded by the X-linked chronic granulomatous disease locus is a component of the neutrophil cytochrome b complex
    • Dinauer MC, Orkin SH, Brown R, Jesaitis AJ, Parkos CA: The glycoprotein encoded by the X-linked chronic granulomatous disease locus is a component of the neutrophil cytochrome b complex. Nature 327:717, 1987
    • (1987) Nature , vol.327 , pp. 717
    • Dinauer, M.C.1    Orkin, S.H.2    Brown, R.3    Jesaitis, A.J.4    Parkos, C.A.5
  • 14
    • 0021915409 scopus 로고
    • Cytochrome b deficiency in an autosomal form of chronic granulomatous disease: A third form of chronic granulomatous disease recognized by monocyte hybridization
    • Weening RS, Corbeel L, de Boer M, Lutter R, van Zwieten R, Hamers MN, Roos D: Cytochrome b deficiency in an autosomal form of chronic granulomatous disease: A third form of chronic granulomatous disease recognized by monocyte hybridization. J Clin Invest 75:915, 1989
    • (1989) J Clin Invest , vol.75 , pp. 915
    • Weening, R.S.1    Corbeel, L.2    De Boer, M.3    Lutter, R.4    Van Zwieten, R.5    Hamers, M.N.6    Roos, D.7
  • 21
    • 0028276185 scopus 로고
    • DNA analysis of Brazilian Duchenne Muscular Dystrophy families using (CA)n microsatellite markers
    • Neves Falcao-Conceiçao D, Kneppers ALJ, Bakker E: DNA analysis of Brazilian Duchenne Muscular Dystrophy families using (CA)n microsatellite markers. Brazil J Genet 17:113, 1994
    • (1994) Brazil J Genet , vol.17 , pp. 113
    • Neves Falcao-Conceiçao, D.1    Kneppers, A.L.J.2    Bakker, E.3
  • 23
    • 0023810785 scopus 로고
    • Mosaicism for an intragenic deletion in a boy with mild ornithine transcarbamylase deficiency
    • Maddalena A, Sosnoski DM, Berry GT, Nussbaum RL: Mosaicism for an intragenic deletion in a boy with mild ornithine transcarbamylase deficiency. N Engl J Med 319:999, 1988
    • (1988) N Engl J Med , vol.319 , pp. 999
    • Maddalena, A.1    Sosnoski, D.M.2    Berry, G.T.3    Nussbaum, R.L.4
  • 25
    • 0023730947 scopus 로고
    • Maternal duplication associated with gene deletion in sporadic hemophilia
    • 25: Gitschier J: Maternal duplication associated with gene deletion in sporadic hemophilia. Am J Hum Genet 43:274, 1988
    • (1988) Am J Hum Genet , vol.43 , pp. 274
    • Gitschier, J.1
  • 26
    • 3142544243 scopus 로고
    • Evidence for increased in vivo mutation and somatic recombination in Bloom's syndrome
    • Langlois RG, Bigbee WL, Jensen RH, German J: Evidence for increased in vivo mutation and somatic recombination in Bloom's syndrome. Proc Natl Acad Sci USA 86:670, 1989
    • (1989) Proc Natl Acad Sci USA , vol.86 , pp. 670
    • Langlois, R.G.1    Bigbee, W.L.2    Jensen, R.H.3    German, J.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.