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

页码：1353 / 1358

页数：6

共 28 条

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