Mutation Analysis in 54 Propionic Acidemia Patients
J. P. Kraus,E. Spector, S. Venezia, P. Estes,P. W. Chiang, G. Creadon-Swindell, S. Müllerleile,L. de Silva,M. Barth,M. Walter,K. Walter,T. Meissner,M. Lindner,R. Ensenauer,R. Santer,O. A. Bodamer,M. R. Baumgartner,M. Brunner-Krainz,D. Karall,C. Haase,I. Knerr,T. Marquardt,J. B. Hennermann,R. Steinfeld,S. Beblo,H. G. Koch,V. Konstantopoulou,S. Scholl-Bürgi,A. van Teeffelen-Heithoff,T. Suormala,M. Ugarte,W. Sperl,A. Superti-Furga,K. O. Schwab,S. C. Grünert,J. O. Sass Journal of Inherited Metabolic Disease（2011）
关键词
Consanguineous Family,Nonsense Mediate Decay,Propionic Acidemia,Holocarboxylase Synthetase,PCCB Gene
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