A complement C5 gene mutation, c.754G>A:p.A252T, is common in the Western Cape, South Africa and found to be homozygous in seven percent of Black African meningococcal disease cases

Molecular Immunology

Volumn 64, Issue 1, 2015, Pages 170-176

  Owen, E Patricia ^a   Würzner, Reinhard ^b   Leisegang, Felicity ^a   Rizkallah, Pierre ^c   Whitelaw, Andrew ^a   Simpson, John ^a   Thomas, Andrew D ^c   Harris, Claire L ^c   Giles, Joanna L ^c   Hellerud, Bernt C ^d   Mollnes, Tom E ^d   Morgan, B Paul ^c   Potter, Paul C ^a   Orren, Ann ^a,c  

^a UNIVERSITY OF CAPE TOWN   (South Africa)

^b INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^c CARDIFF UNIVERSITY   (United Kingdom)

^d OSLO UNIVERSITY HOSPITAL   (Norway)

Author keywords

Black African; Complement C5 deficiency; Meningococcal disease

Indexed keywords

COMPLEMENT COMPONENT C5;

ADOLESCENT; ADULT; BLACK PERSON; BLOOD; CHEMISTRY; COMPLEMENT ACTIVATION; DEFICIENCY; EPIDEMIC MENINGITIS; FAMILY; FEMALE; GENETIC PREDISPOSITION; GENETICS; HOMOZYGOTE; HUMAN; IMMUNE DEFICIENCY; IMMUNOLOGY; MALE; MUTATION; MUTATION RATE; NEWBORN; PEDIGREE; SOUTH AFRICA; YOUNG ADULT;

ADOLESCENT; ADULT; AFRICAN CONTINENTAL ANCESTRY GROUP; COMPLEMENT ACTIVATION; COMPLEMENT C5; FAMILY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HOMOZYGOTE; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; INFANT, NEWBORN; MALE; MENINGITIS, MENINGOCOCCAL; MUTATION; MUTATION RATE; PEDIGREE; SOUTH AFRICA; YOUNG ADULT;

EID: 84920075010     PISSN: 01615890     EISSN: 18729142     Source Type: Journal    
DOI: 10.1016/j.molimm.2014.11.010     Document Type: Article

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