Two novel mutations in the C7 gene in a Korean patient with complement C7 deficiency

Journal of Korean Medical Science

Volumn 20, Issue 2, 2005, Pages 220-224

  Ki, Chang Seok ^a   Kim, Jong Won ^a   Kim, Hee Jin ^a   Choi, Sung Min ^b   Ha, Gyoung Yim ^b   Hee, Jung Kang ^c   Kim, Won Duck ^b  

^a Sungkyunkwan University School of Medicine   (South Korea)

^b Dongguk University College of Medicine   (South Korea)

^c Hallym University   (South Korea)

Author keywords

C7 gene; Complement 7; Deficiency; Koreans; Meningitis; Meningococcal; Missense; Mutation

Indexed keywords

COMPLEMENT COMPONENT C7; PLASMA PROTEIN;

ARTICLE; CASE REPORT; COMPLEMENT DEFICIENCY; EPIDEMIC MENINGITIS; EXON; FEMALE; GENE DELETION; GENE DOSAGE; GENE MUTATION; GENE SEQUENCE; GENETIC DISORDER; HAPLOTYPE; HEMOLYSIS; HUMAN; IMMUNODIFFUSION; INTRON; KOREA; MUTATIONAL ANALYSIS; SCHOOL CHILD;

EID: 18244369451     PISSN: 10118934     EISSN: None     Source Type: Journal    
DOI: 10.3346/jkms.2005.20.2.220     Document Type: Article

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