Two mutations of the C7 gene, c.1424G > A and c.281-1G > T, in two Korean families

Journal of Clinical Immunology

Volumn 26, Issue 2, 2006, Pages 186-191

  Kang, Hee Jung ^a,d   Ki, Chang Seok ^b   Kim, Yeon Sook ^c   Hur, Mina ^a   Jang, So Ick ^a   Min, Ki Sik ^a  

^a Hallym University   (South Korea)

^b Sungkyunkwan University School of Medicine   (South Korea)

^c Chungnam National University College of Medicine   (South Korea)

^d Hallym University College of Medicine   (South Korea)

Author keywords

Complement 7 deficiency; Gene mutation; Koreans; Meningococcal infection

Indexed keywords

COMPLEMENT COMPONENT C7; CYSTEINE; TYROSINE;

ADOLESCENT; ADULT; ARTICLE; BINDING SITE; CLINICAL ARTICLE; COMPLEMENT DEFICIENCY; CONTROLLED STUDY; EPIDEMIC MENINGITIS; EXON; FAMILY; FEMALE; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; HOMOZYGOSITY; HOMOZYGOTE; HUMAN; KOREA; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RNA SPLICING;

ADOLESCENT; ADULT; BASE SEQUENCE; COMPLEMENT C7; COMPLEMENT PATHWAY, CLASSICAL; FEMALE; HUMANS; MALE; MENINGITIS, MENINGOCOCCAL; MUTATION; POLYMERASE CHAIN REACTION;

EID: 33745005106     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-006-9006-6     Document Type: Article

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