A new autosomal recessive, heterozygous pair of mutations of CYBA in a patient with chronic granulomatous disease.
Chang
Yu-Hao
YH
Yu
Hsin-Hui
HH
Lau
Yu-Lung
YL
Chan
Koon-Wing
KW
Chiang
Bor-Luen
BL
D002648:Child; D025063:Chromosome Disorders; D002885:Chromosomes, Human, Pair 16; D004252:DNA Mutational Analysis; D005260:Female; D005808:Genes, Recessive; D006105:Granulomatous Disease, Chronic / Q000175:diagnosis* / Q000235:genetics* / Q000276:immunology / Q000503:physiopathology; D006579:Heterozygote; D006801:Humans; D009154:Mutation / Q000235:genetics; D019255:NADPH Oxidases / Q000235:genetics*; D010375:Pedigree; D015203:Reproducibility of Results; D012235:Rhodamines; D012680:Sensitivity and Specificity
D012235:Rhodamines; C058319:dihydrorhodamine 123; D019255:NADPH Oxidases; C086986:CYBA protein, human