Sprong, Tom <br/><br/>
Deficient alternative complement pathway activation due to factor D deficiency by 2 novel mutations in the complement factor D gene in a family with meningococcal infections.  [electronic resource] 

 -  Blood  Jun 2006 
 - 4865-70 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>0006-4971 
<br/><br/><label>Standard No.: </label>10.1182/blood-2005-07-2820  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Amino Acid Substitution--immunology<br/>Complement C1q--analysis<br/>Complement C3-C5 Convertases--analysis<br/>Complement Factor B--genetics<br/>Complement Factor D--analysis<br/>Complement Pathway, Alternative--genetics<br/>DNA Mutational Analysis<br/>Female<br/>Genetic Diseases, Inborn--blood<br/>Genetic Predisposition to Disease<br/>Homozygote<br/>Humans<br/>Infant<br/>Male<br/>Meningococcal Infections--blood<br/>Neisseria meningitidis--immunology<br/>Point Mutation--immunology<br/>Shock, Septic--blood