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Items: 1 to 20 of 151

1.

Molecular genetic analysis of phagocyte oxidase cytochrome b558 mutations leading to chronic granulomatous disease.

Hossle JP, Berthet F, Erny C, Seger RA.

Immunodeficiency. 1993;4(1-4):303-6. No abstract available.

PMID:
8167722
2.

Chronic granulomatous disease: mutations in cytochrome b558.

Roos D, De Boer M, De Klein A, Bolscher BG, Weening RS.

Immunodeficiency. 1993;4(1-4):289-301. Review. No abstract available.

PMID:
8167720
3.
5.

Molecular analysis in three cases of X91- variant chronic granulomatous disease.

Bu-Ghanim HN, Segal AW, Keep NH, Casimir CM.

Blood. 1995 Nov 1;86(9):3575-82.

6.

Uncommon missense and splice mutations and resulting biochemical phenotypes in German patients with X-linked chronic granulomatous disease.

Roesler J, Heyden S, Burdelski M, Schäfer H, Kreth HW, Lehmann R, Paul D, Marzahn J, Gahr M, Rösen-Wolff A.

Exp Hematol. 1999 Mar;27(3):505-11.

PMID:
10089913
7.
8.

Functional analysis of two-amino acid substitutions in gp91 phox in a patient with X-linked flavocytochrome b558-positive chronic granulomatous disease by means of transgenic PLB-985 cells.

Bionda C, Li XJ, van Bruggen R, Eppink M, Roos D, Morel F, Stasia MJ.

Hum Genet. 2004 Oct;115(5):418-27. Epub 2004 Aug 24.

PMID:
15338276
9.

[Molecular aspects of chronic granulomatous disease. "the NADPH oxidase complex"].

Morel F.

Bull Acad Natl Med. 2007 Feb;191(2):377-90; discussion 390-2. Review. French.

PMID:
17969555
10.

Point mutations in the beta-subunit of cytochrome b558 leading to X-linked chronic granulomatous disease.

Bolscher BG, de Boer M, de Klein A, Weening RS, Roos D.

Blood. 1991 Jun 1;77(11):2482-7.

12.

Mutations in the X-linked and autosomal recessive forms of chronic granulomatous disease.

Roos D, de Boer M, Kuribayashi F, Meischl C, Weening RS, Segal AW, Ahlin A, Nemet K, Hossle JP, Bernatowska-Matuszkiewicz E, Middleton-Price H.

Blood. 1996 Mar 1;87(5):1663-81. Review. No abstract available.

13.

A novel mutation at a probable heme-binding ligand in neutrophil cytochrome b558 in atypical X-linked chronic granulomatous disease.

Tsuda M, Kaneda M, Sakiyama T, Inana I, Owada M, Kiryu C, Shiraishi T, Kakinuma K.

Hum Genet. 1998 Oct;103(4):377-81.

PMID:
9856476
14.
15.

Statistical and mutational analysis of chronic granulomatous disease in Japan with special reference to gp91-phox and p22-phox deficiency.

Ishibashi F, Nunoi H, Endo F, Matsuda I, Kanegasaki S.

Hum Genet. 2000 May;106(5):473-81.

PMID:
10914676
16.

Human peripheral eosinophils have a specific mechanism to express gp91-phox, the large subunit of cytochrome b558.

Kuribayashi F, Kumatori A, Suzuki S, Nakamura M, Matsumoto T, Tsuji Y.

Biochem Biophys Res Commun. 1995 Apr 6;209(1):146-52.

PMID:
7726828
17.
18.

Genetic studies of three Japanese patients with p22-phox-deficient chronic granulomatous disease: detection of a possible common mutant CYBA allele in Japan and a genotype-phenotype correlation in these patients.

Yamada M, Ariga T, Kawamura N, Ohtsu M, Imajoh-Ohmi S, Ohshika E, Tatsuzawa O, Kobayashi K, Sakiyama Y.

Br J Haematol. 2000 Mar;108(3):511-7.

PMID:
10759707
19.

Characterization of 11 novel mutations in the X-linked chronic granulomatous disease (CYBB gene).

Gérard B, El Benna J, Alcain F, Gougerot-Pocidalo MA, Grandchamp B, Chollet-Martin S.

Hum Mutat. 2001 Aug;18(2):163.

PMID:
11462241
20.
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