论文信息 - Novel PRPS1 gain‐of‐function mutation in a patient with congenital hyperuricemia and facial anomalies - 字舞流文

Novel PRPS1 gain‐of‐function mutation in a patient with congenital hyperuricemia and facial anomalies

E. Schröck | A. Rump | A. V. van Kuilenburg | A. Tzschach | D. Dobritzsch | N. Di Donato | J. Schallner | J. Roelofsen | J. Porrmann | Elitza Betcheva-Krajcir | A. Kahlert