Disease-causing mutations in genes of the complement system.

doi:10.1016/j.ajhg.2011.05.011

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Article

Disease-causing mutations in genes of the complement system.

American journal of human genetics - 10 Jun 2011

Degn Søren E, Jensenius Jens C, Thiel Steffen

Abstract excerpt

Recent studies have revealed profound developmental consequences of mutations in genes encoding proteins of the lectin pathway of complement activation, a central component of the innate immune system. Apart from impairment of immunity against microorganisms, it is known that hereditary deficiencies of this system predispose one to autoimmune conditions. Polymorphisms in complement genes are linked to, for...

Topics

Amino Acid Substitution
Animals
Collectins
Complement Activating Enzymes
Complement Activation
Complement System Proteins
Genes, Lethal
Humans
Mice
Mutation
Polymorphism, Genetic
Protein Conformation

Source

Open in PubMed Open full text

Identifiers

PMID: 21664996
DOI: 10.1016/j.ajhg.2011.05.011
PMCID: PMC3113252

Genes

COLEC11
MASP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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