A new autosomal recessive, heterozygous pair of mutations of CYBA in a patient with chronic granulomatous disease.

Chang, Yu-Hao; Yu, Hsin-Hui; Lau, Yu-Lung; Chan, Koon-Wing; Chiang, Bor-Luen

Chang, Yu-Hao; Yu, Hsin-Hui; Lau, Yu-Lung; Chan, Koon-Wing; Chiang, Bor-Luen.

Ann Allergy Asthma Immunol ; 105(2): 183-5, 2010 Aug.

Article in En | MEDLINE | ID: mdl-20674832

Subject(s)

Chromosome Disorders; Chromosomes, Human, Pair 16; Granulomatous Disease, Chronic/diagnosis; Granulomatous Disease, Chronic/genetics; NADPH Oxidases/genetics; Child; DNA Mutational Analysis; Female; Genes, Recessive; Granulomatous Disease, Chronic/immunology; Granulomatous Disease, Chronic/physiopathology; Heterozygote; Humans; Mutation/genetics; Pedigree; Reproducibility of Results; Rhodamines; Sensitivity and Specificity

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Chromosomes, Human, Pair 16 / NADPH Oxidases / Chromosome Disorders / Granulomatous Disease, Chronic Type of study: Diagnostic_studies Limits: Child / Female / Humans Language: En Journal: Ann Allergy Asthma Immunol Journal subject: ALERGIA E IMUNOLOGIA Year: 2010 Document type: Article Country of publication: United States

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