Y688X, the first nonsense mutation in familial Mediterranean fever (FMF).
Notarnicola
C
C
Hospital A de Villeneuve, Montpellier, France.
Manna
R
R
Rey
J M
JM
Touitou
I
I
D000328:Adult; D019943:Amino Acid Substitution / Q000235:genetics*; D018389:Codon, Nonsense / Q000235:genetics*; D018388:Codon, Terminator / Q000235:genetics*; D010505:Familial Mediterranean Fever / Q000235:genetics*; D005260:Female; D006801:Humans; D014443:Tyrosine / Q000235:genetics*
D018389:Codon, Nonsense; D018388:Codon, Terminator; D014443:Tyrosine