Reagents, Molecular Assay, Gene Anomaly, Mutation, KRIT1
Definition : Molecular assay reagents intended to identify mutations in the ankyrin repeat containing (KRIT1) gene, located a chromosome 7q21-q22, which encodes for a protein that is involved in the formation of blood vessels during embryo development. Mutations at this locus have been identified in many patients with cerebral cavernous malformation (CCM), also known as familial cavernous angioma.
Entry Terms : "CCM1 Gene Mutation Detection Reagents" , "Cerebral Cavernous Malformations 1 Gene Mutation Detection Reagents" , "KRIT1 Gene Mutation Detection Reagents"
UMDC code : 24481