-
4
-
-
0028235329
-
Homologous dinucleotide (GT or TG) deletion in Japanese patients with chronic granulomatous disease with p47-phox defciency
-
(1994)
Biochem. Biophys. Res. Commun.
, vol.199
, pp. 1372-1377
-
-
Iwata, M.1
Nunoi, H.2
Yamazaki, H.3
Nakano, T.4
Niwa, H.5
Tsuruta, S.6
Ohga, S.7
Ohmi, S.8
Kanegasaki, S.9
Matsuda, I.10
-
5
-
-
0027498398
-
In vitro molecular reconstitution of the respiratory burst in B lymphoblasts from p47-phox-deficient chronic granulomatous disease
-
(1993)
J. Clin. Invest.
, vol.91
, pp. 201-207
-
-
Volpp, B.D.1
Lin, Y.2
-
6
-
-
13344293679
-
Mutations in the X-linked and autosomal recessive forms of chronic granulomatous disease
-
(1996)
Blood
, vol.87
, pp. 1663-1681
-
-
Roos, D.1
De Boer, M.2
Kuribayashi, F.3
Meischl, C.4
Weening, R.S.5
Segal, A.W.6
Åhlin, A.7
Nemet, K.8
Hossle, J.P.9
Bernatowska-Matuszkiewicz, E.10
Middleton-Price, H.11
-
9
-
-
4244172813
-
Primary immunodeficiency mutation databases
-
Advances in Genetics (Hall, J. C., Dunlap, J. C., Friedmann, T., and Giannelli, F., Eds.), Vol. 43, in press
-
(2000)
-
-
Vihinen, M.1
Arredondo-Vega, F.X.2
Casanova, J.-L.3
Etzioni, A.4
Giliani, S.5
Hammarström, L.6
Hershfield, M.S.7
Heyworth, P.G.8
Hsu, A.P.9
Lähdesmäki, A.10
Lappalainen, I.11
Notarangelo, L.D.12
Puck, J.M.13
Reith, W.14
Roos, D.15
Schumacher, R.F.16
Schwarz, K.17
Vezzoni, P.18
Villa, A.19
Väliaho, J.20
Smith, C.I.E.21
more..
-
10
-
-
0040945789
-
A p47-phox pseudogene carries the most common mutation causing p47-phox-deficient chronic granulomatous disease
-
(1997)
J. Clin. Invest.
, vol.100
, pp. 1907-1918
-
-
Görlach, A.1
Lee, P.L.2
Roesler, J.3
Hopkins, P.J.4
Christensen, B.5
Green, E.D.6
Chanock, S.J.7
Curnutte, J.T.8
-
11
-
-
0003053791
-
Chronic granulomatous disease
-
Primary Immunodeficiency Diseases: A Molecular and Genetic Approach (Ochs, H. D., Smith, C. I. E., and Puck, J. M., Eds.). Oxford Univ. Press, New York
-
(1999)
, pp. 353-374
-
-
Roos, D.1
Curnutte, J.T.2
-
12
-
-
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.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
Buckley, R.H.11
Foster, C.B.12
Chanock, S.J.13
Dickler, H.14
-
16
-
-
0034117623
-
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
-
(2000)
Br. J. Haematol.
, vol.108
, pp. 511-517
-
-
Yamada, M.1
Ariga, T.2
Kawamura, N.3
Ohtsu, M.4
Imajoh-Ohmi, S.5
Ohshika, E.6
Tatsuzawa, O.7
Kobayashi, K.8
Sakiyama, Y.9
-
20
-
-
0026334623
-
Point mutation in the cytoplasmic domain of the neutrophil p22-phox cytochrome b subunit is associated with a nonfunctional NADPH oxidase and chronic granulomatous disease
-
(1991)
Proc. Natl. Acad. Sci. USA
, vol.88
, pp. 11231-11235
-
-
Dinauer, M.C.1
Pierce, E.A.2
Erickson, R.W.3
Muhlebach, T.J.4
Messner, H.5
Orkin, S.H.6
Seger, R.A.7
Curnutte, J.T.8
-
22
-
-
0032732828
-
Autosomal recessive chronic granulomatous disease caused by novel mutations in NCF-2, the gene encoding the p67-phox component of phagocyte oxidase
-
doi: 10.1007/s004399900152
-
(1999)
Hum. Genet.
, vol.105
, pp. 460-467
-
-
Noack, D.1
Rae, J.2
Cross, A.R.3
Munoz, J.4
Salmen, S.5
Mendoza, J.A.6
Rossi, N.7
Curnutte, J.T.8
Heyworth, P.G.9
-
23
-
-
0029565532
-
Prevalence, genetics and clinical presentation of chronic granulomatous disease in Sweden
-
(1995)
Acta Paediatr.
, vol.84
, pp. 1386-1394
-
-
Åhlin, A.1
De Boer, M.2
Roos, D.3
Leusen, J.4
Smith, C.I.E.5
Sundin, U.6
Rabbani, H.7
Palmblad, J.8
Elinder, G.9
-
24
-
-
10244232861
-
Disturbed interaction of p21-rac with mutated p67-phox causes chronic granulomatous disease
-
(1996)
J. Exp. Med.
, vol.184
, pp. 1243-1249
-
-
Leusen, J.H.W.1
De Klein, A.2
Hilarius, P.M.3
Åhlin, A.4
Palmblad, J.5
Smith, C.I.E.6
Diekmann, D.7
Hall, A.8
Verhoeven, A.J.9
Roos, D.10
-
25
-
-
0028088842
-
Autosomal recessive chronic granulomatous disease with absence of the 67-kD cytosolic NADPH oxidase component: Identification of mutation and detection of carriers
-
(1994)
Blood
, vol.83
, pp. 531-536
-
-
De Boer, M.1
Hilarius-Stokman, P.M.2
Hossle, J.-P.3
Verhoeven, A.J.4
Graf, N.5
Kenney, R.T.6
Seger, R.7
Roos, D.8
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