rs151344482
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
A missense mutation in the neutrophil cytochrome b heavy chain in cytochrome-positive X-linked chronic granulomatous disease.
|
2556453 |
1989 |
rs151344482
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
A newly recognized point mutation in the cytochrome b558 heavy chain gene replacing alanine57 by glutamic acid, in a patient with cytochrome b positive X-linked chronic granulomatous disease.
|
8101486 |
1993 |
rs151344482
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
A novel missense mutation in the NADPH binding domain of CYBB abolishes the NADPH oxidase activity in a male patient with increased susceptibility to infections.
|
27666509 |
2016 |
rs151344482
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
A point mutation in gp91-phox of cytochrome b558 of the human NADPH oxidase leading to defective translocation of the cytosolic proteins p47-phox and p67-phox.
|
8182143 |
1994 |
rs151344482
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
An in-frame triplet deletion within the gp91-phox gene in an adult X-linked chronic granulomatous disease patient with residual NADPH-oxidase activity.
|
9111587 |
1997 |
rs151344482
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Characterization of 11 novel mutations in the X-linked chronic granulomatous disease (CYBB gene).
|
11462241 |
2001 |
rs151344482
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients.
|
23910690 |
2013 |
rs151344482
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
First report of clinical, functional, and molecular investigation of chronic granulomatous disease in nine Jordanian families.
|
18773283 |
2009 |
rs151344482
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
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.
|
15338276 |
2004 |
rs151344482
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Genetic analysis of 13 families with X-linked chronic granulomatous disease reveals a low proportion of sporadic patients and a high proportion of sporadic carriers.
|
9667376 |
1998 |
rs151344482
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Identification and functional characterization of two novel mutations in the α-helical loop (residues 484-503) of CYBB/gp91(phox) resulting in the rare X91(+) variant of chronic granulomatous disease.
|
22125116 |
2012 |
rs151344482
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Identification of mutations in seven Chinese patients with X-linked chronic granulomatous disease.
|
8916969 |
1996 |
rs151344482
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Molecular analysis of chronic granulomatous disease caused by defects in gp91-phox.
|
9888386 |
1999 |
rs151344482
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Molecular and functional characterization of a new X-linked chronic granulomatous disease variant (X91+) case with a double missense mutation in the cytosolic gp91phox C-terminal tail.
|
11997083 |
2002 |
rs151344482
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Nicotinamide-adenine dinucleotide phosphate oxidase assembly and activation in EBV-transformed B lymphoblastoid cell lines of normal and chronic granulomatous disease patients.
|
9794433 |
1998 |
rs151344482
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Point mutations in the beta-subunit of cytochrome b558 leading to X-linked chronic granulomatous disease.
|
1710153 |
1991 |
rs151344482
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Statistical and mutational analysis of chronic granulomatous disease in Japan with special reference to gp91-phox and p22-phox deficiency.
|
10914676 |
2000 |
rs151344482
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Two novel point mutations in the cytochrome b 558 heavy chain gene, detected in two Japanese patients with X-linked chronic granulomatous disease.
|
7927345 |
1994 |
rs151344482
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Uncommon missense and splice mutations and resulting biochemical phenotypes in German patients with X-linked chronic granulomatous disease.
|
10089913 |
1999 |
rs151344482
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
X-Linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox component of respiratory-burst oxidase.
|
9585602 |
1998 |