|
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Two CGD Families with a Hypomorphic Mutation in the Activation Domain of p67phox.
|
25937994 |
2014 |
|
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients.
|
23910690 |
2013 |
|
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update).
|
20167518 |
2010 |
|
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update).
|
20167518 |
2010 |
|
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Four different NCF2 mutations in six families from Turkey and an overview of NCF2 gene mutations.
|
19624736 |
2009 |
|
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Four different NCF2 mutations in six families from Turkey and an overview of NCF2 gene mutations.
|
19624736 |
2009 |
|
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Focus on FOCIS: the continuing diagnostic challenge of autosomal recessive chronic granulomatous disease.
|
18625437 |
2008 |
|
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Focus on FOCIS: the continuing diagnostic challenge of autosomal recessive chronic granulomatous disease.
|
18625437 |
2008 |
|
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Genetic and mutational heterogeneity of autosomal recessive chronic granulomatous disease in Tunisia.
|
16937026 |
2006 |
|
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (first update).
|
11112388 |
2000 |
|
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Molecular characterization of autosomal recessive chronic granulomatous disease caused by a defect of the nicotinamide adenine dinucleotide phosphate (reduced form) oxidase component p67-phox.
|
10498624 |
1999 |
|
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Molecular characterization of autosomal recessive chronic granulomatous disease caused by a defect of the nicotinamide adenine dinucleotide phosphate (reduced form) oxidase component p67-phox.
|
10498624 |
1999 |
|
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Autosomal recessive chronic granulomatous disease caused by novel mutations in NCF-2, the gene encoding the p67-phox component of phagocyte NADPH oxidase.
|
10598813 |
1999 |
|
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Autosomal recessive chronic granulomatous disease caused by novel mutations in NCF-2, the gene encoding the p67-phox component of phagocyte NADPH oxidase.
|
10598813 |
1999 |
|
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Molecular characterization of autosomal recessive chronic granulomatous disease caused by a defect of the nicotinamide adenine dinucleotide phosphate (reduced form) oxidase component p67-phox.
|
10498624 |
1999 |
|
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Identification of a double mutation (D160V-K161E) in the p67phox gene of a chronic granulomatous disease patient.
|
9070911 |
1997 |
|
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Autosomal recessive chronic granulomatous disease with absence of the 67-kD cytosolic NADPH oxidase component: identification of mutation and detection of carriers.
|
8286749 |
1994 |
|
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|