Genetic analysis of 10 unrelated Korean families with p22-phoxdeficient Chronic granulomatous disease: An Unusually identical mutation of the CYBA gene on Jeju Island, Korea

Journal of Korean Medical Science

Volumn 24, Issue 6, 2009, Pages 1045-1050

  Kim, Young Mee ^a   Park, Ji Eun ^a   Kim, Jin Young ^a   Lim, Hee Kyung ^a   Nam, Jae Kook ^a   Cho, Moonjae ^a   Shin, Kyung Sue ^a  

^a Jeju National University School of Medicine   (South Korea)

Author keywords

Chronic; Codon; CYBA; Granulomatous disease; Korea; Molecular diagnosis; NADPH oxidase; Nonsense

Indexed keywords

CYBA PROTEIN, HUMAN; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE OXIDASE;

ADOLESCENT; ADULT; ANIMAL; ARTICLE; ASIAN; CHILD; CHRONIC GRANULOMATOUS DISEASE; FEMALE; GENETICS; GEOGRAPHY; HUMAN; INFANT; KOREA; MALE; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PRESCHOOL CHILD;

ADOLESCENT; ANIMALS; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; GEOGRAPHY; GRANULOMATOUS DISEASE, CHRONIC; HUMANS; INFANT; KOREA; MALE; MOLECULAR SEQUENCE DATA; MUTATION; NADPH OXIDASE; PEDIGREE; YOUNG ADULT;

EID: 75349109711     PISSN: 10118934     EISSN: 15986357     Source Type: Journal    
DOI: 10.3346/jkms.2009.24.6.1045     Document Type: Article

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