Homozygosity for a novel mutation in the C1q c chain gene in a Turkish family with hereditary C1q deficiency

Journal of Investigational Allergology and Clinical Immunology

Volumn 20, Issue 3, 2010, Pages 255-258

  Gulez, N ^a   Genel, F ^a   Atlihan, F ^a   Gullstrand, B ^b   Skattum, L ^b   Schejbel, L ^c   Garred, P ^c   Truedsson, L ^b  

^a DR BEHÇET UZ CHILDREN'S HOSPITAL   (Turkey)

^b LUND UNIVERSITY   (Sweden)

^c Rigshospitalet   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CEFTRIAXONE; COMPLEMENT COMPONENT C1Q; COMPLEMENT COMPONENT C1Q C; GLYCINE; UNCLASSIFIED DRUG; VANCOMYCIN;

AMINO ACID SUBSTITUTION; ANTIBODY TITER; ARTICLE; BACTERIAL MENINGITIS; BACTERIAL PNEUMONIA; CASE REPORT; CEREBROSPINAL FLUID ANALYSIS; CHILD; CODON; COMPLEMENT COMPONENT C1Q C DEFICIENCY; COMPLEMENT DEFICIENCY; FEMALE; GENE AMPLIFICATION; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; HOMOZYGOSITY; HUMAN; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PROTEIN BLOOD LEVEL; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; STREPTOCOCCUS PNEUMONIAE;

CHILD; COMPLEMENT C1Q; COMPLEMENT PATHWAY, CLASSICAL; DNA; FEMALE; HOMOZYGOTE; HUMANS; MALE; MUTATION, MISSENSE; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; TURKEY;

EID: 77954354590     PISSN: 10189068     EISSN: 16980808     Source Type: Journal    
DOI: None     Document Type: Article

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