https://scholars.lib.ntu.edu.tw/handle/123456789/531452
標題: | Identification of novel mutations in the SLC25A15 Gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: A clinical, molecular, and functional study | 作者: | Tessa A. Fiermonte G. Dionisi-Vici C. Paradies E. Baumgartner M.R. YIN-HSIU CHIEN Loguercio C. De Baulny H.O. Nassogne M.-C. Schiff M. Deodato F. Parenti G. Rutledge S.L. Antonia Vilaseca M. Melone M.A.B. Scarano G. Aldamiz-Echevarria L. Besley G. Walter J. Martinez-Hernandez E. Hernandez J.M. Pierri C.L. Palmieri F. Santorelli F.M. |
公開日期: | 2009 | 卷: | 30 | 期: | 5 | 起(迄)頁: | 741-748 | 來源出版物: | Human Mutation | URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-66749177843&doi=10.1002%2fhumu.20930&partnerID=40&md5=3075350622a901fe53bfc7005bd1197c https://scholars.lib.ntu.edu.tw/handle/123456789/531452 |
ISSN: | 1059-7794 | DOI: | 10.1002/humu.20930 |
顯示於: | 醫學系 |
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