Isolated R171Q amino acid change in MEN1 gene: polymorphism or mutation?
De Carlo
E
E
Pilon
C
C
Zatelli
M C
MC
degli Uberti
E C
EC
Fallo
F
F
D000236:Adenoma / Q000150:complications / Q000235:genetics; D019943:Amino Acid Substitution / Q000235:genetics; D001120:Arginine / Q000235:genetics; D005260:Female; D005973:Glutamine / Q000235:genetics; D006801:Humans; D049950:Hyperparathyroidism, Primary / Q000209:etiology / Q000235:genetics; D008875:Middle Aged; D009154:Mutation / Q000502:physiology; D010282:Parathyroid Neoplasms / Q000150:complications / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D012008:Recurrence
C105373:MEN1 protein, human; D011518:Proto-Oncogene Proteins; D005973:Glutamine; D001120:Arginine