(Q44826659)
Statements
A novel missense mutation, c.584A > C (Y195S), in two unrelated Argentine patients with hypoxanthine-guanine phosphoribosyl-transferase deficiency, neurological variant (English)
L E Laróvere
L D Fairbanks
C Conde
N Guelbert
A L Rosa
R Dodelson de Kremer
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1 reference