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GENATLAS PHENOTYPE |
last update : 30-08-2010 |
Symbol | NCF1D |
Location | 7q11.23 |
Name | granulomatous disease, chronic, cytochrome b-positive, type I |
Other name(s) |
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Corresponding gene | NCF1 |
Main clinical features | impetiginous skin lesions, repeated infections |
Genetic determination | autosomal recessive |
Prevalence | 1 in 250,000 individuals |
Function/system disorder | hematology |
Type | disease |
Gene product |
Name | neutrophil cytosolic factor 1 (47kD component of NADPH oxidase system), p47-phox (NCF1) |
Remark(s) |