The E148Q mutation in the MEFV gene: is it a disease-causing mutation or a sequence variant?

Ben-Chetrit, E

The E148Q mutation in the MEFV gene: is it a disease-causing mutation or a sequence variant? [electronic resource] - Human mutation Apr 2000 - 385-6 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1098-1004

10.1002/(SICI)1098-1004(200004)15:4<385::AID-HUMU22>3.0.CO;2-A doi


Adolescent
Adult
Alleles
Amino Acid Substitution--genetics
Child
Cytoskeletal Proteins
Familial Mediterranean Fever--genetics
Female
Genetic Variation--genetics
Glutamic Acid--genetics
Glutamine--genetics
Humans
Jews--genetics
Male
Middle Aged
Morocco
Mutation--genetics
Pedigree
Proteins--genetics
Pyrin