MOSAICISM FOR AN INTRAGENIC DELETION IN A BOY WITH MILD ORNITHINE TRANSCARBAMYLASE DEFICIENCY

被引：58

作者：

MADDALENA, A

SOSNOSKI, DM

BERRY, GT

NUSSBAUM, RL

机构：

[1] UNIV PENN,SCH MED,DEPT HUMAN GENET,PHILADELPHIA,PA 19104

[2] UNIV PENN,SCH MED,DEPT PEDIAT,PHILADELPHIA,PA 19104

[3] UNIV PENN,SCH MED,HOWARD HUGHES MED INST,PHILADELPHIA,PA 19104

[4] CHILDRENS HOSP PHILADELPHIA,PHILADELPHIA,PA 19104

来源：

NEW ENGLAND JOURNAL OF MEDICINE | 1988年 / 319卷 / 15期

关键词：

D O I：

10.1056/NEJM198810133191507

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：999 / 1003

页数：5

共 21 条

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