Homozygous frameshift mutation in the SLC22A12 gene in a patient with primary gout and high levels of serum uric acid.
Vázquez-Mellado
J
J
Rheumatology Service, Hospital General de México, Facultad de Medicina, Universidad Nacional Autónoma de México, México DF, Mexico.
Alvarado-Romano
V
V
Burgos-Vargas
R
R
Jiménez-Vaca
A L
AL
Pozo-Molina
G
G
Cuevas-Covarrubias
S A
SA
D000328:Adult; D015210:Arthritis, Gouty / Q000097:blood / Q000235:genetics; D016368:Frameshift Mutation / Q000235:genetics*; D006073:Gout / Q000097:blood / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D033461:Hyperuricemia / Q000097:blood / Q000235:genetics*; D008297:Male; D016254:Mutagenesis, Insertional / Q000235:genetics; D027361:Organic Anion Transporters / Q000235:genetics*; D027701:Organic Cation Transport Proteins / Q000235:genetics*; D014527:Uric Acid / Q000097:blood*
D027361:Organic Anion Transporters; D027701:Organic Cation Transport Proteins; C491241:SLC22A12 protein, human; D014527:Uric Acid