Linked Life Data

19535802

Source:http://linkedlifedata.com/resource/pubmed/id/19535802

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
25
pubmed:dateCreated
2009-6-18
pubmed:abstractText
Ficolin-3, encoded by the FCN3 gene and expressed in the lung and liver, is a recognition molecule in the lectin pathway of the complement system. Heterozygosity for an FCN3 frameshift mutation (rs28357092), leading to a distortion of the C-terminal end of the molecule, occurs in people without disease (allele frequency among whites, 0.01). We describe a patient with recurrent infections who was homozygous for this mutation, who had undetectable serum levels of ficolin-3, and who had a deficiency in ficolin-3-dependent complement activation.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
1533-4406
pubmed:author
pubmed:copyrightInfo
2009 Massachusetts Medical Society
pubmed:issnType
Electronic
pubmed:day
18
pubmed:volume
360
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
2637-44
pubmed:meshHeading
pubmed:year
2009
pubmed:articleTitle
Immunodeficiency associated with FCN3 mutation and ficolin-3 deficiency.
pubmed:affiliation
Laboratory of Molecular Medicine, Department of Clinical Immunology, Sect-7631, Rigshospitalet, University of Copenhagen, Faculty of Health Sciences, Copenhagen, Denmark.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't