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Items: 1 to 20 of 383

2.

A donor splice site mutation in intron 1 of CYBA, leading to chronic granulomatous disease.

de Boer M, Hartl D, Wintergerst U, Belohradsky BH, Roos D.

Blood Cells Mol Dis. 2005 Nov-Dec;35(3):365-9. Epub 2005 Sep 12.

PMID:
16157492
4.

Molecular analysis of 9 new families with chronic granulomatous disease caused by mutations in CYBA, the gene encoding p22(phox).

Rae J, Noack D, Heyworth PG, Ellis BA, Curnutte JT, Cross AR.

Blood. 2000 Aug 1;96(3):1106-12.

5.

Autosomal recessive chronic granulomatous disease caused by novel mutations in NCF-2, the gene encoding the p67-phox component of phagocyte NADPH oxidase.

Noack D, Rae J, Cross AR, Muñoz J, Salmen S, Mendoza JA, Rossi N, Curnutte JT, Heyworth PG.

Hum Genet. 1999 Nov;105(5):460-7.

PMID:
10598813
6.
7.

Six different CYBA mutations including three novel mutations in ten families from Turkey, resulting in autosomal recessive chronic granulomatous disease.

Köker MY, van Leeuwen K, de Boer M, Celmeli F, Metin A, Ozgür TT, Tezcan I, Sanal O, Roos D.

Eur J Clin Invest. 2009 Apr;39(4):311-9. doi: 10.1111/j.1365-2362.2009.02093.x.

PMID:
19292887
8.

Identification of a donor splice site mutation leading to loss of p22-phox exon 5 in autosomal chronic granulomatous disease.

Porter CD, Parkar MH, Kinnon C.

Hum Mutat. 1996;7(4):374. No abstract available.

PMID:
8723692
9.

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
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11.
12.

Two-exon skipping due to a point mutation in p67-phox--deficient chronic granulomatous disease.

Aoshima M, Nunoi H, Shimazu M, Shimizu S, Tatsuzawa O, Kenney RT, Kanegasaki S.

Blood. 1996 Sep 1;88(5):1841-5.

13.
14.

Characterization of six novel mutations in CYBA: the gene causing autosomal recessive chronic granulomatous disease.

Teimourian S, Zomorodian E, Badalzadeh M, Pouya A, Kannengiesser C, Mansouri D, Cheraghi T, Parvaneh N.

Br J Haematol. 2008 Jun;141(6):848-51. doi: 10.1111/j.1365-2141.2008.07148.x. Epub 2008 Apr 18.

PMID:
18422995
15.

A splice-supporting intronic mutation in the last bp position of a cryptic exon within intron 6 of the CYBB gene induces its incorporation into the mRNA causing chronic granulomatous disease (CGD).

Rump A, Rösen-Wolff A, Gahr M, Seidenberg J, Roos C, Walter L, Günther V, Roesler J.

Gene. 2006 Apr 26;371(2):174-81. Epub 2006 Mar 3.

PMID:
16516412
16.

Mutation at histidine 338 of gp91(phox) depletes FAD and affects expression of cytochrome b558 of the human NADPH oxidase.

Yoshida LS, Saruta F, Yoshikawa K, Tatsuzawa O, Tsunawaki S.

J Biol Chem. 1998 Oct 23;273(43):27879-86.

17.

A new mutation in exon 12 of the gp91-phox gene leading to cytochrome b-positive X-linked chronic granulomatous disease.

Azuma H, Oomi H, Sasaki K, Kawabata I, Sakaino T, Koyano S, Suzutani T, Nunoi H, Okuno A.

Blood. 1995 Jun 1;85(11):3274-7.

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Splice site mutations are a common cause of X-linked chronic granulomatous disease.

de Boer M, Bolscher BG, Dinauer MC, Orkin SH, Smith CI, Ahlin A, Weening RS, Roos D.

Blood. 1992 Sep 15;80(6):1553-8.

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