메뉴 건너뛰기




Volumn 3, Issue 6, 2009, Pages 603-609

Clinical and molecular characteristics of Thai families with autosomal recessive chronic granulomatous disease

Author keywords

CGD; Chronic granulomatous disease; Mutation analysis; NCF1

Indexed keywords

AMPHOTERICIN B; DIHYDRORHODAMINE 123; ITRACONAZOLE; PROTEIN P47; SULFAMETHOXAZOLE; TRIMETHOPRIM; VORICONAZOLE;

EID: 79952155984     PISSN: 19057415     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (2)

References (24)
  • 2
    • 0034128751 scopus 로고    scopus 로고
    • Genetic, biochemical, and clinical features of chronic granulomatous disease
    • DOI 10.1097/00005792-200005000-00004
    • Segal BH, Leto TL, Gallin JI, Malech HL, Holland SM. Genetic, biochemical, and clinical features of chronic granulomatous disease. Medicine (Baltimore). 2000;79:170-200. (Pubitemid 30327531)
    • (2000) Medicine , vol.79 , Issue.3 , pp. 170-200
    • Segal, B.H.1    Leto, T.L.2    Gallin, J.I.3    Malech, H.L.4    Holland, S.M.5
  • 3
    • 0030007343 scopus 로고    scopus 로고
    • Testing for chronic granulomatous disease
    • Vowells SJ, Fleisher TA, Malech HL. Testing for chronic granulomatous disease. Lancet. 1996;347:1048-9.
    • (1996) Lancet , vol.347 , pp. 1048-1049
    • Vowells, S.J.1    Fleisher, T.A.2    Malech, H.L.3
  • 5
    • 0030378085 scopus 로고    scopus 로고
    • Hematologically important mutations: The autosomal recessive forms of chronic granulomatous disease
    • DOI 10.1006/bcmd.1996.0109
    • Cross AR, Curnutte JT, Heyworth PG. Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease. Blood Cells Mol Dis. 1996;22:268-70. (Pubitemid 27492088)
    • (1996) Blood Cells, Molecules and Diseases , vol.22 , Issue.3 , pp. 268-270
    • Cross, A.R.1    Curnutte, J.T.2    Heyworth, P.G.3
  • 6
    • 0024215472 scopus 로고
    • Two cytosolic neutrophil oxidase components absent in autosomal chronic granulomatous disease
    • Volpp BD, Nauseef WM, Clark RA. Two cytosolic neutrophil oxidase components absent in autosomal chronic granulomatous disease. Science. 1988;242:1295-7. (Pubitemid 19008058)
    • (1988) Science , vol.242 , Issue.4883 , pp. 1295-1297
    • Volpp, B.D.1    Nauseef, W.M.2    Clark, R.A.3
  • 8
    • 0023766806 scopus 로고
    • A comparative study of virulent and avirulent strains of Chromobacterium violaceum
    • Miller DP, Blevins WT, Steele DB, Stowers MD. A comparative study of virulent and avirulent strains of Chromobacterium violaceum. Can J Microbiol. 1988;34:249-55.
    • (1988) Can. J. Microbiol. , vol.34 , pp. 249-255
    • Miller, D.P.1    Blevins, W.T.2    Steele, D.B.3    Stowers, M.D.4
  • 14
    • 62349140657 scopus 로고    scopus 로고
    • Molecular epidemiology of chronic granulomatous disease in a series of 80 kindreds: Identification of 31 novel mutations
    • Kannengiesser C, Gerard B, El Benna J, Henri D, Kroviarski Y, Chollet-Martin S, et al. Molecular epidemiology of chronic granulomatous disease in a series of 80 kindreds: identification of 31 novel mutations. Hum Mutat. 2008;29: E132-49.
    • (2008) Hum. Mutat. , vol.29
    • Kannengiesser, C.1    Gerard, B.2    El Benna, J.3    Henri, D.4    Kroviarski, Y.5    Chollet-Martin, S.6
  • 16
    • 0034653483 scopus 로고    scopus 로고
    • Recombination events between the p47-phox gene and its highly homologous pseudogenes are the main cause of autosomal recessive chronic granulomatous disease
    • Roesler J, Curnutte JT, Rae J, Barrett D, Patino P, Chanock SJ, et al. Recombination events between the p47-phox gene and its highly homologous pseudogenes are the main cause of autosomal recessive chronic granulomatous disease. Blood. 2000;95:2150-6. (Pubitemid 30151659)
    • (2000) Blood , vol.95 , Issue.6 , pp. 2150-2156
    • Roesler, J.1    Curnutte, J.T.2    Rae, J.3    Barrett, D.4    Patino, P.5    Chanock, S.J.6    Goerlach, A.7
  • 19
    • 0034764060 scopus 로고    scopus 로고
    • phox-deficient autosomal recessive chronic granulomatous disease
    • DOI 10.1016/S0301-472X(01)00731-7, PII S0301472X01007317
    • Dekker J, de Boer M, Roos D. Gene-scan method for the recognition of carriers and patients with p47 (phox) - deficient autosomal recessive chronic granulomatous disease. Exp Hematol. 2001;29:1319-25. (Pubitemid 33033309)
    • (2001) Experimental Hematology , vol.29 , Issue.11 , pp. 1319-1325
    • Dekker, J.1    De Boer, M.2    Roos, D.3
  • 21
    • 0027477152 scopus 로고
    • A de novo pathological point mutation at the 21-hydroxylase locus: Implications for gene conversion in the human genome
    • DOI 10.1038/ng0393-260
    • Collier S, Tassabehji M, Sinnott P, Strachan T. A de novo pathological point mutation at the 21-hydroxylase locus: implications for gene conversion in the human genome. Nat Genet. 1993;3:260-5. (Pubitemid 23096564)
    • (1993) Nature Genetics , vol.3 , Issue.3 , pp. 260-265
    • Collier, S.1    Tassabehji, M.2    Trachan, T.3
  • 23
    • 0036258208 scopus 로고    scopus 로고
    • Cystic fibrosis: A worldwide analysis of CFTR mutations - Correlation with incidence data and application to screening
    • DOI 10.1002/humu.10041
    • Bobadilla JL, Macek M, Jr., Fine JP, Farrell PM. Cystic fibrosis: a worldwide analysis of CFTR mutationscorrelation with incidence data and application to screening. Hum Mutat. 2002;19:575-606. (Pubitemid 34556480)
    • (2002) Human Mutation , vol.19 , Issue.6 , pp. 575-606
    • Bobadilla, J.L.1    Macek Jr., M.2    Fine, J.P.3    Farrell, P.M.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.