A Manually Curated Knowledgebase of Aging across a variety of Species

Details


Name E148Q
Type somatic mutation
Species Homo sapiens
Tissue blood samples
Experiment Method qPCR
Up/Down NA
Pro/Anti Pro
Funtion Description The prevalence of MEFV mutations in the study group was compared to the known prevalence, by ethnic group, in the Israeli population. The presence of associated diseases in mutation carriers versus noncarriers was compared. The majority of study subjects
Regulation Gene MEFV
Year 2013
Pubmed ID 23592051
Title E148Q MEFV mutation carriage and longevity in individuals of Ashkenazi origin
Drug NA
Disease NA
Environment Factors NA
Circulating 1
Variant somatic mutation
High-throughput NA