I591T MEFV mutation in a Spanish kindred: is it a mild mutation, a benign polymorphism, or a variant influenced by another modifier?
Aldea
Anna
A
Casademont
Jordi
J
Aróstegui
Juan I
JI
Rius
Josefa
J
Masó
Montserrat
M
Vives
Jordi
J
Yagüe
Jordi
J
D000328:Adult; D019943:Amino Acid Substitution / Q000235:genetics*; D010505:Familial Mediterranean Fever / Q000235:genetics* / Q000473:pathology; D005260:Female; D006580:Genetic Carrier Screening; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D007532:Isoleucine / Q000235:genetics; D008297:Male; D009154:Mutation / Q000235:genetics*; D009679:Nuclear Family; D010375:Pedigree; D011110:Polymorphism, Genetic / Q000235:genetics*; D013030:Spain; D013912:Threonine / Q000235:genetics
D007532:Isoleucine; D013912:Threonine