A family with complement factor D deficiency

Journal of Clinical Investigation

Volumn 108, Issue 2, 2001, Pages 233-240

  Biesma, Douwe H ^a   Hannema, André J ^b   Van Velzen Blad, Heleen ^a   Mulder, Leontine ^a   Van Zwieten, Rob ^b   Kluijt, Irma ^c   Roos, Dirk ^b,c  

^a ST ANTONIUS HOSPITAL   (Netherlands)

^b CENTRAL LABORATORY   (Netherlands)

^c UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENT FACTOR D; SERINE; SIGNAL PEPTIDE;

ADULT; ALLELE; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CHROMOSOME 19; CODON; COMPLEMENT ACTIVATION; COMPLEMENT ALTERNATIVE PATHWAY; COMPLEMENT DEFICIENCY; CONSANGUINITY; DISEASE PREDISPOSITION; DISEASE SEVERITY; ESCHERICHIA COLI; FAMILY; FEMALE; GENE LOCATION; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; HUMAN; MENINGITIS; NEISSERIA MENINGITIDIS; OPSONIZATION; PHAGOCYTOSIS; POINT MUTATION; PRIORITY JOURNAL;

ADULT; BASE SEQUENCE; COMPLEMENT FACTOR D; COMPLEMENT HEMOLYTIC ACTIVITY ASSAY; CONSANGUINITY; DNA, COMPLEMENTARY; ECCHYMOSIS; FEMALE; HUMANS; IMMUNE SYSTEM DISEASES; MOLECULAR SEQUENCE DATA; PEDIGREE; POINT MUTATION;

EID: 0034959265     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI200112023     Document Type: Article

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