IDENTIFICATION OF MUTATIONS (D128G, H141L) IN THE LIVER ARGINASE GENE OF PATIENTS WITH HYPERARGININEMIA

被引：36

作者：

VOCKLEY, JG

TABOR, DE

KERN, RM

GOODMAN, BK

WISSMANN, PB

KANG, DS

GRODY, WW

CEDERBAUM, SD

机构：

[1] UNIV CALIF LOS ANGELES,SCH MED,DEPT PSYCHIAT,LOS ANGELES,CA 90024

[2] UNIV CALIF LOS ANGELES,SCH MED,DEPT PEDIAT,LOS ANGELES,CA 90024

[3] UNIV CALIF LOS ANGELES,SCH MED,DEPT LAB MED & PATHOL,LOS ANGELES,CA 90024

[4] UNIV CALIF LOS ANGELES,SCH MED,MENTAL RETARDAT RES CTR,LOS ANGELES,CA 90024

[5] RUSH PRESBYTERIAN ST LUKES MED CTR,CHICAGO,IL 60612

来源：

HUMAN MUTATION | 1994年 / 4卷 / 02期

关键词：

D O I：

10.1002/humu.1380040210

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

[No abstract available]

引用

页码：150 / 154

页数：5

共 16 条

[1] ARGINASE DEFICIENCY IN A 12-YEAR-OLD BOY WITH MILD IMPAIRMENT OF INTELLECTUAL FUNCTION [J].

BERNAR, J ;

HANSON, RA ;

KERN, R ;

PHOENIX, B ;

SHAW, KNF ;

CEDERBAUM, SD .

JOURNAL OF PEDIATRICS, 1986, 108 (03) :432-435

[2]

BRUSILOW SW, 1989, METABOLIC BASIS INHE, P621

[3] HYPERARGININEMIA WITH ARGINASE DEFICIENCY [J].

CEDERBAUM, SD ;

SHAW, KNF ;

SPECTOR, EB ;

VERITY, MA ;

SNODGRASS, PJ ;

SUGARMAN, GI .

PEDIATRIC RESEARCH, 1979, 13 (07) :827-833

[4]

GRODY WW, 1992, AM J HUM GENET, V50, P1281

[5]

GRODY WW, 1987, ISOZYMES-CURR T BIOL, V13, P181

[6] MOLECULAR-BASIS OF ARGININEMIA - IDENTIFICATION OF 2 DISCRETE FRAME-SHIFT DELETIONS IN THE LIVER-TYPE ARGINASE GENE [J].

HARAGUCHI, Y ;

APARICIO, JM ;

TAKIGUCHI, M ;

AKABOSHI, I ;

YOSHINO, M ;

MORI, M ;

MATSUDDA, I .

JOURNAL OF CLINICAL INVESTIGATION, 1990, 86 (01) :347-350

[7] MOLECULAR-CLONING AND NUCLEOTIDE-SEQUENCE OF CDNA FOR HUMAN-LIVER ARGINASE [J].

HARAGUCHI, Y ;

TAKIGUCHI, M ;

AMAYA, Y ;

KAWAMOTO, S ;

MATSUDA, I ;

MORI, M .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1987, 84 (02) :412-415

[8] HETEROGENEITY OF ARGINASES IN RAT TISSUES [J].

HERZFELD, A ;

RAPER, SM .

BIOCHEMICAL JOURNAL, 1976, 153 (02) :469-478

[9] ARGININEMIA [J].

SNYDERMAN, SE ;

SANSARICQ, C ;

CHEN, WJ ;

NORTON, PM ;

PHANSALKAR, SV .

JOURNAL OF PEDIATRICS, 1977, 90 (04) :563-568

[10]

SPECTOR EB, 1980, AM J HUM GENET, V32, P79

← 1 2 →