Prevalence of mutations leading to complete C6 deficiency (C6Q0) in the Western Cape, South Africa and detection of novel mutations leading to C6Q0 in an Irish family

Molecular Immunology

Volumn 44, Issue 10, 2007, Pages 2756-2760

  Parham, Kelly L ^a   Roberts, Andrew ^a   Thomas, Andrew ^a   Würzner, Reinhard ^b   Henderson, Howard E ^c   Potter, Paul C ^c   Morgan, B Paul ^a   Orren, Ann ^a,c  

^a CARDIFF UNIVERSITY   (United Kingdom)

^b INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^c UNIVERSITY OF CAPE TOWN   (South Africa)

Author keywords

C6 gene nomenclature; C6Q0; Complement component C6; Complement deficiency; Membrane attack complex

Indexed keywords

COMPLEMENT COMPONENT C6; TYROSINE;

ARTICLE; CLINICAL ARTICLE; CODON; COMPLEMENT DEFICIENCY; DONOR SITE; EUROPE; EXON; FAMILY; FRAMESHIFT MUTATION; GENE IDENTIFICATION; GENOTYPE; HUMAN; INTRON; IRELAND; NUCLEOTIDE SEQUENCE; PREVALENCE; PRIORITY JOURNAL; PROBABILITY; RNA SPLICING; SIBLING; SOUTH AFRICA; UNITED STATES;

COMPLEMENT C6; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MENINGOCOCCAL INFECTIONS; MUTATION; NEISSERIA MENINGITIDIS; PEDIGREE; SOUTH AFRICA; TYROSINE;

NEISSERIA MENINGITIDIS;

EID: 33846913468     PISSN: 01615890     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.molimm.2006.11.022     Document Type: Article

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