Application | Comment | Organism |
---|---|---|
medicine | two Spanish families with complete factor I deficiency, suffering from meningitis. The two families have different mutations at exon 5 of the factor I gene, which codifies for module LDLr1. One mutation corresponds to a 772G-A change at the donor splice site that is originally found in a family from Northern England. The second is a new missense mutation 739T-G, that generates a Cys to Gly change. Homozygous factor I deficiency is associated with infectious and/or autoimmune diseases | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
blood | - |
Homo sapiens | - |
serum | - |
Homo sapiens | - |
Synonyms | Comment | Organism |
---|---|---|
CFI | - |
Homo sapiens |