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Clinical Immunology

Volumn 104, Issue 1, 2002, Pages 73-76

CYBB mutation analysis in X-linked chronic granulomatous disease

(4) Jirapongsananuruk, Orathai a Niemela, Julie E a Malech, Harry L a Fleisher, Thomas A a

a NATIONAL INSTITUTES OF HEALTH (United States)

Author keywords

CGD; Chronic granulomatous disease; CYBB; DNA sequencing; Mutation analysis; Phagocyte defect

Indexed keywords

COMPLEMENTARY DNA; GENOMIC DNA; MESSENGER RNA; OXIDOREDUCTASE; PROTEIN DERIVATIVE;

ANALYTIC METHOD; ARTICLE; CHRONIC GRANULOMATOUS DISEASE; CONTROLLED STUDY; DNA SCREENING; DNA SEQUENCE; ENZYME ACTIVITY; GENE AMPLIFICATION; GENE MUTATION; HUMAN; INTRON; NUCLEOTIDE SEQUENCE; PHAGOCYTE; PHENOTYPE; PRIORITY JOURNAL; PROMOTER REGION; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM; X CHROMOSOME LINKAGE;

EID: 0036334075 PISSN: 15216616 EISSN: None Source Type: Journal
DOI: 10.1006/clim.2002.5230 Document Type: Article

Times cited : (31)

References (13)

1
- 0034128751
- Genetic, biochemical, and clinical features of chronic granulomatous disease
- (2000) Medicine , vol.79 , pp. 170-200
- Segal, B.H.¹ Leto, T.L.² Gallin, J.I.³ Malech, H.L.⁴ Holland, S.M.⁵

2
- 0034040532
- Chronic granulomatous disease, report on a national registry of 368 patients
- (2000) Medicine , vol.79 , pp. 155-169
- Winkelstein, J.A.¹ Marino, M.C.² Johnston R.B., Jr.³ Boyle, J.⁴ Curnutte, J.⁵ Gallin, J.I.⁶ Malech, H.L.⁷ Holland, S.M.⁸ Ochs, H.⁹ Quie, P.¹⁰

3
- 0030007343
- Testing for chronic granulomatous disease
- (1996) Lancet , vol.347 , pp. 1048-1049
- Vowells, S.J.¹ Fleisher, T.A.² Malech, H.L.³

4
- 0030045762
- Genotype-dependent variability in flow cytometric evaluation of reduced nicotinamide adenine dinucleotide phosphate oxidase function in patients with chronic granulomatous disease
- (1996) J. Pediatr. , vol.128 , pp. 104-107
- Vowells, S.J.¹ Fleisher, T.A.² Sekhsaria, S.³ Alling, D.W.⁴ Maguire, T.E.⁵ Malech, H.L.⁶

5
- 0035054158
- Hematologically important mutations: X-linked chronic granulomatous disease (second update)
- (2001) Blood Cells Mol. Dis. , vol.27 , pp. 16-26
- Heyworth, P.G.¹ Curnutte, J.T.² Rae, J.³ Noack, D.⁴ Roos, D.⁵ Van Koppen, E.⁶ Cross, A.R.⁷

6
- 0032923790
- Molecular analysis of chronic granulomatous disease caused by defects in gp91-phox
- (1999) Hum. Mutat. , vol.13 , pp. 29-37
- Patino, P.J.¹ Perez, J.E.² Lopez, J.A.³ Condino-Neto, A.⁴ Grumach, A.S.⁵ Botero, J.H.⁶ Curnutte, J.T.⁷ Garcia de Olarte, D.⁸

7
- 0031777032
- X-linked chronic granulomatous disease: Mutations in the CYBB gene encoding the gp91-phox component of respiratory-burst oxidase
- (1998) Am. J. Hum. Genet. , vol.62 , pp. 1320-1331
- Rae, J.¹ Newburger, P.E.² Dinauer, M.C.³ Noack, D.⁴ Hopkins, P.J.⁵ Kuruto, R.⁶ Curnutte, J.T.⁷

8
- 0028086550
- 558
- (1994) J. Clin. Invest. , vol.94 , pp. 1205-1211
- Newburger, P.E.¹ Skalnik, D.G.² Hopkins, P.J.³ Eklund, E.A.⁴ Curnutte, J.T.⁵

9
- 0029043704
- A 15-base pair (bp) palindromic insertion associated with a 3-bp deletion in exon 10 of the gp91-phox gene, detected in two patients with X-linked chronic granulomatous disease
- (1995) Hum. Genet. , vol.96 , pp. 6-8
- Ariga, T.¹ Sakiyama, Y.² Matsumoto, S.³

10
- 0030296689
- X-CGDbase: A database of X-CGD-causing mutations
- (1996) Immunol. Today , vol.17 , pp. 517-521
- Roos, D.¹ Curnutte, J.T.² Hossle, J.P.³ Lan, Y.L.⁴ Ariga, T.⁵ Nunoi, H.⁶ Dinauer, M.C.⁷ Gahr, M.⁸ Segal, A.W.⁹ Newburger, P.E.¹⁰

11
- 0027193630
- The sensitivity of single-strand conformation polymorphism analysis for the detection of single base substitutions
- (1993) Genomics , vol.16 , pp. 325-332
- Sheffield, V.C.¹ Beck, J.S.² Kwitek, A.E.³ Sandstrom, D.W.⁴ Stone, E.M.⁵

12
- 0033051914
- Uncommon missense and splice mutations and resulting biochemical phenotypes in German patients with X-linked chronic granulomatous disease
- (1999) Exp. Hematol. , vol.27 , pp. 505-511
- Roesler, J.¹ Heyden, S.² Burdelski, M.³ Schafer, H.⁴ Kreth, H.⁵ Lehmann, R.⁶ Paul, D.⁷ Marzahn, J.⁸ Gahr, M.⁹ Rosen-Wolff, A.¹⁰

13
- 0001550068
- Predicting DNA duplex stability from the base sequence
- (1986) Proc. Natl. Acad. Sci. USA , vol.83 , pp. 3746-3750
- Breslauer, K.J.¹ Frank, R.² Blocker, H.³ Marky, L.A.⁴

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.