https://scholars.lib.ntu.edu.tw/handle/123456789/527078
標題: | A new autosomal recessive, heterozygous pair of mutations of CYBA in a patient with chronic granulomatous disease | 作者: | Chang Y.-H. HSIN-HUI YU Lau Y.-L. Chan K.-W. BOR-LUEN CHIANG |
公開日期: | 2010 | 卷: | 105 | 期: | 2 | 起(迄)頁: | 183-185 | 來源出版物: | Annals of Allergy, Asthma and Immunology | URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-77955228347&doi=10.1016%2fj.anai.2010.05.013&partnerID=40&md5=589c0f0c21b007a68c29ce0454114eee https://scholars.lib.ntu.edu.tw/handle/123456789/527078 |
ISSN: | 1081-1206 | DOI: | 10.1016/j.anai.2010.05.013 | SDG/關鍵字: | ceftriaxone; glycoprotein; protein CYBA; reduced nicotinamide adenine dinucleotide phosphate oxidase 2; unclassified drug; CYBA protein, human; dihydrorhodamine 123; reduced nicotinamide adenine dinucleotide phosphate oxidase; rhodamine; abdominal pain; autosomal recessive disorder; case report; cellulitis; cervical lymphadenopathy; chemoluminescence; child; chronic granulomatous disease; diagnostic test; diarrhea; DNA determination; enterocolitis; female; flow cytometry; gene mutation; heterozygosity; human; immunohistochemistry; letter; lung tuberculosis; nitroblue tetrazolium test; osteomyelitis; polymerase chain reaction; priority journal; reverse transcription polymerase chain reaction; salmonellosis; school child; septic shock; X chromosome linkage; chromosome 16; chromosome disorder; comparative study; diagnostic use; genetics; Granulomatous Disease, Chronic; heterozygote; immunology; mutation; nucleotide sequence; pathophysiology; pedigree; recessive gene; reproducibility; sensitivity and specificity; Child; Chromosome Disorders; Chromosomes, Human, Pair 16; DNA Mutational Analysis; Female; Genes, Recessive; Granulomatous Disease, Chronic; Heterozygote; Humans; Mutation; NADPH Oxidase; Pedigree; Reproducibility of Results; Rhodamines; Sensitivity and Specificity; Child; Chromosome Disorders; Chromosomes, Human, Pair 16; DNA Mutational Analysis; Female; Genes, Recessive; Granulomatous Disease, Chronic; Heterozygote; Humans; Mutation; NADPH Oxidase; Pedigree; Reproducibility of Results; Rhodamines; Sensitivity and Specificity |
顯示於: | 醫學系 |
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