Towards routine screening of rare genetic diseases: the example of chronic granulomatous disease.
Stasia
Marie José
MJ
Chronic Granulomatous Disease Diagnosis and Research Center, University Hospital Grenoble, BP 217, 38043 Grenoble, Cedex 9, France. mjstasia@chu-grenoble.fr
D005260:Female; D050172:Genes, X-Linked / Q000235:genetics*; D006105:Granulomatous Disease, Chronic / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics; D000074662:NADPH Oxidase 2; D019255:NADPH Oxidases / Q000235:genetics; D016133:Polymerase Chain Reaction / Q000379:methods*; D017422:Sequence Analysis, DNA
D008562:Membrane Glycoproteins; C056558:CYBB protein, human; D000074662:NADPH Oxidase 2; D019255:NADPH Oxidases