GENETIC-HETEROGENEITY IN PARTIAL ADENOSINE-DEAMINASE DEFICIENCY

被引：31

作者：

HIRSCHHORN, R

MARTINIUK, F

ROEGNERMANISCALCO, V

ELLENBOGEN, A

PERIGNON, JL

JENKINS, T

机构：

[1] FAC MED NECKER ENFANTS MALAD,PARIS,FRANCE

[2] UNIV WITWATERSRAND,S AFRICAN INST MED RES,SCH PATHOL,DEPT HUMAN GENET,JOHANNESBURG 2001,SOUTH AFRICA

来源：

JOURNAL OF CLINICAL INVESTIGATION | 1983年 / 71卷 / 06期

关键词：

D O I：

10.1172/JCI110944

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：1887 / 1892

页数：6

共 29 条

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[9] ERYTHROCYTE ADENOSINE-DEAMINASE DEFICIENCY WITHOUT IMMUNODEFICIENCY - EVIDENCE FOR AN UNSTABLE MUTANT ENZYME [J].

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[10] INCREASED EXCRETION OF MODIFIED ADENINE NUCLEOSIDES BY CHILDREN WITH ADENOSINE-DEAMINASE DEFICIENCY [J].

HIRSCHHORN, R ;

RATECH, H ;

RUBINSTEIN, A ;

PAPAGEORGIOU, P ;

KESARWALA, H ;

GELFAND, E ;

ROEGNERMANISCALCO, V .

PEDIATRIC RESEARCH, 1982, 16 (05) :362-369

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