A G-TO-T TRANSVERSION AT THE +5-POSITION OF INTRON-1 IN THE GLUTARYL COA DEHYDROGENASE GENE IS ASSOCIATED WITH THE ISLAND LAKE VARIANT OF GLUTARIC ACIDEMIA TYPE-I

被引：50
作者：
GREENBERG, CR
REIMER, D
SINGAL, R
TRIGGSRAINE, B
CHUDLEY, AE
DILLING, LA
PHILIPPS, S
HAWORTH, JC
SEARGEANT, LE
GOODMAN, SI
机构：
[1] UNIV MANITOBA,DEPT HUMAN GENET,WINNIPEG,MB R3E 0W3,CANADA
[2] UNIV COLORADO,SCH MED,DEPT PEDIAT,DENVER,CO
[3] UNIV MANITOBA,DEPT PEDIAT & CHILD HLTH,WINNIPEG,MB R3E 0W3,CANADA
[4] UNIV MANITOBA,DEPT BIOCHEM & MOLEC BIOL,WINNIPEG,MB,CANADA
来源：
HUMAN MOLECULAR GENETICS | 1995年 / 4卷 / 03期
关键词：
D O I：
10.1093/hmg/4.3.493
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
引用
收藏
页码：493 / 495
页数：3
相关论文
共 16 条
[1]   GLUTARIC ACIDURIA TYPE-I - CLINICAL HETEROGENEITY AND NEURORADIOLOGICAL FEATURES [J].
AMIR, N ;
ELPELEG, O ;
SHALEV, RS ;
CHRISTENSEN, E .
NEUROLOGY, 1987, 37 (10) :1654-1657
[2]   GLUTARIC ACIDURIA TYPE-1 - BIOCHEMICAL INVESTIGATIONS AND POSTMORTEM FINDINGS [J].
BENNETT, MJ ;
MARLOW, N ;
POLLITT, RJ ;
WALES, JKH .
EUROPEAN JOURNAL OF PEDIATRICS, 1986, 145 (05) :403-405
[3]  
BERGMAN I, 1989, PEDIATRICS, V83, P228
[4]  
Biery B. J., 1992, American Journal of Human Genetics, V51, pA165
[5]   GLUTARIC ACIDURIA - NEW DISORDER OF AMINO-ACID METABOLISM [J].
GOODMAN, SI ;
MARKEY, SP ;
MOE, PG ;
MILES, BS ;
TENG, CC .
BIOCHEMICAL MEDICINE, 1975, 12 (01) :12-21
[6]  
GOODMAN SI, 1992, NEW DEV FATTY ACID O, P169
[7]   ASSIGNMENT OF HUMAN GLUTARYL-COA DEHYDROGENASE GENE (GCDH) TO THE SHORT ARM OF CHROMOSOME-19 (19P13.2) BY IN-SITU HYBRIDIZATION AND SOMATIC-CELL HYBRID ANALYSIS [J].
GREENBERG, CR ;
DUNCAN, AMV ;
GREGORY, CA ;
SINGAL, R ;
GOODMAN, SI .
GENOMICS, 1994, 21 (01) :289-290
[8]   A HOMOALLELIC GLY(317)-]ASP MUTATION IN ALPL CAUSES THE PERINATAL (LETHAL) FORM OF HYPOPHOSPHATASIA IN CANADIAN MENNONITES [J].
GREENBERG, CR ;
TAYLOR, CLD ;
HAWORTH, JC ;
SEARGEANT, LE ;
PHILIPPS, S ;
TRIGGSRAINE, B ;
CHODIRKER, BN .
GENOMICS, 1993, 17 (01) :215-217
[9]   PHENOTYPIC VARIABILITY IN GLUTARIC ACIDURIA TYPE-1 - REPORT OF 14 CASES IN 5 CANADIAN INDIAN KINDREDS [J].
HAWORTH, JC ;
BOOTH, FA ;
CHUDLEY, AE ;
DEGROOT, GW ;
DILLING, LA ;
GOODMAN, SI ;
GREENBERG, CR ;
MALLORY, CJ ;
MCCLARTY, BM ;
SESHIA, SS ;
SEARGEANT, LE .
JOURNAL OF PEDIATRICS, 1991, 118 (01) :52-58
[10]  
KOELLER DM, UNPUB CLONING STRUCT
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