The first confirmed case with C3 deficiency caused by compound heterozygous mutations in the C3 gene; a new aspect of pathogenesis for C3 deficiency

Blood Cells, Molecules, and Diseases

Volumn 40, Issue 3, 2008, Pages 410-413

  Kida, Miyuki ^a   Fujioka, Hirotaka ^b   Kosaka, Yoshiyuki ^c   Hayashi, Kouhei ^c   Sakiyama, Yukio ^a   Ariga, Tadashi ^a  

^a HOKKAIDO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b Bibai Rosai Hospital   (Japan)

^c KOBE CHILDREN S HOSPITAL   (Japan)

Author keywords

C3 deficiency; Component C3; Compound heterozygous mutations

Indexed keywords

COMPLEMENT COMPONENT C3; GENOMIC DNA;

ARTICLE; BACTERIAL INFECTION; BLOOD EXAMINATION; BRONCHITIS; C3 DEFICIENCY; CASE REPORT; COMPLEMENT BLOOD LEVEL; COMPLEMENT DEFICIENCY; EXON; FRAMESHIFT MUTATION; GENE AMPLIFICATION; GENE INSERTION SEQUENCE; GENE MUTATION; HETEROZYGOTE; HUMAN; HYPOTHESIS; LABORATORY TEST; MALE; MENINGITIS; NONSENSE MUTATION; PATHOGENESIS; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; STOP CODON;

CHILD, PRESCHOOL; COMPLEMENT C3; EXONS; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MALE; MUTATION;

EID: 41949133028     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bcmd.2007.11.002     Document Type: Article

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