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