A DELETION INSERTION MUTATION IN THE IDUA GENE IN A LIBYAN JEWISH PATIENT WITH HURLER SYNDROME (MUCOPOLYSACCHARIDOSIS IH)

被引：27
作者：
MOSKOWITZ, SM
TIEU, PT
NEUFELD, EF
机构：
[1] UNIV CALIF LOS ANGELES,SCH MED,DEPT BIOL CHEM,LOS ANGELES,CA 90024
[2] UNIV CALIF LOS ANGELES,SCH MED,BRAIN RES INST,LOS ANGELES,CA 90024
来源：
HUMAN MUTATION | 1993年 / 2卷 / 01期
关键词：
D O I：
10.1002/humu.1380020113
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
[No abstract available]
引用
收藏
页码：71 / 73
页数：3
相关论文
共 15 条
[1]   NONSENSE MUTATIONS IN THE HUMAN BETA-GLOBIN GENE AFFECT MESSENGER-RNA METABOLISM [J].
BASERGA, SJ ;
BENZ, EJ .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1988, 85 (07) :2056-2060
[2]  
CHOMCZYNSKI P, 1987, ANAL BIOCHEM, V162, P152
[3]   PREMATURE TRANSLATION TERMINATION MEDIATES TRIOSEPHOSPHATE ISOMERASE MESSENGER-RNA DEGRADATION [J].
DAAR, IO ;
MAQUAT, LE .
MOLECULAR AND CELLULAR BIOLOGY, 1988, 8 (02) :802-813
[4]  
HOPWOOD JJ, 1990, MOL BIOL MED, V7, P381
[5]   ARCHITECTURE OF THE CANINE IDUA GENE AND MUTATION UNDERLYING CANINE MUCOPOLYSACCHARIDOSIS-I [J].
MENON, KP ;
TIEU, PT ;
NEUFELD, EF .
GENOMICS, 1992, 14 (03) :763-768
[6]  
Moskowitz S. M., 1992, American Journal of Human Genetics, V51, pA173
[7]  
MOSKOWITZ SM, 1992, FASEB J, V6, pA77
[8]  
MYEROWITZ R, 1988, J BIOL CHEM, V263, P18587
[9]  
Neufeld EF, 1989, METABOLIC BASIS INHE, P1565
[10]   INCIDENCE OF MUCOPOLYSACCHARIDOSES IN ISRAEL - IS HUNTER DISEASE A JEWISH DISEASE [J].
SCHAAP, T ;
BACH, G .
HUMAN GENETICS, 1980, 56 (02) :221-223
12