Properdin deficiency in a large Swiss family: identification of a stop codon in the properdin gene, and association of meningococcal disease with lack of the IgG2 allotype marker G2m(n)

Autor:	Scherz R, G. Hauptmann, Claes Wadelius, Mathias Uhlén, Schaad Ub, Uhring-Lambert B, Lennart Truedsson, Joakim Westberg, Misiano G, Anders G. Sjöholm, Gunilla Nordin Fredrikson, P.J. Späth
Rok vydání:	1999
Předmět:	Adult Male Adolescent Immunology chemical and pharmacologic phenomena Meningitis Meningococcal Biology urologic and male genital diseases medicine.disease_cause Meningococcal disease Exon Immunoglobulin Gm Allotypes medicine Humans Immunology and Allergy Child Complement Activation Aged Aged 80 and over Genetics Polymorphism Genetic Properdin Neisseria meningitidis Point mutation Complement C4 Sequence Analysis DNA Original Articles Middle Aged Complement deficiency medicine.disease Virology female genital diseases and pregnancy complications Stop codon Allotype Pedigree Child Preschool Codon Terminator Female Switzerland
Zdroj:	Clinical and Experimental Immunology. 118:278-284
ISSN:	1365-2249 0009-9104
DOI:	10.1046/j.1365-2249.1999.01056.x
Popis:	SUMMARYProperdin deficiency was demonstrated in three generations of a large Swiss family. The concentration of circulating properdin in affected males was
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c946e035d1e2f5705b8ad5dba79343c0 https://doi.org/10.1046/j.1365-2249.1999.01056.x Zobrazit plný text záznamu Plný text