CHARACTERIZATION OF POINT MUTATIONS IN THE SAME ARGININE CODON IN 3 UNRELATED PATIENTS WITH ORNITHINE TRANSCARBAMYLASE DEFICIENCY

被引：60
作者：
MADDALENA, A
SPENCE, JE
OBRIEN, WE
NUSSBAUM, RL
机构：
[1] UNIV PENN,SCH MED,HOWARD HUGHES MED INST,37TH & HAMILTON WALK,PHILADELPHIA,PA 19104
[2] UNIV PENN,SCH MED,DEPT HUMAN GENET,PHILADELPHIA,PA 19104
[3] UNIV PENN,SCH MED,DEPT PEDIAT,PHILADELPHIA,PA 19104
[4] BAYLOR COLL MED,INST MOLEC GENET,HOUSTON,TX 77030
[5] BAYLOR COLL MED,HOWARD HUGHES MED INST,HOUSTON,TX 77030
来源：
JOURNAL OF CLINICAL INVESTIGATION | 1988年 / 82卷 / 04期
关键词：
D O I：
10.1172/JCI113738
中图分类号：
R-3 [医学研究方法]; R3 [基础医学];
学科分类号：
1001 ;
摘要：
引用
收藏
页码：1353 / 1358
页数：6
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