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

页码：493 / 495

页数：3

共 16 条

[1] GLUTARIC ACIDURIA TYPE-I - CLINICAL HETEROGENEITY AND NEURORADIOLOGICAL FEATURES
AMIR, N
ELPELEG, O
SHALEV, RS
CHRISTENSEN, E
[J]. NEUROLOGY, 1987, 37 (10) : 1654 - 1657
[2] GLUTARIC ACIDURIA TYPE-1 - BIOCHEMICAL INVESTIGATIONS AND POSTMORTEM FINDINGS
BENNETT, MJ
MARLOW, N
POLLITT, RJ
WALES, JKH
[J]. 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
GOODMAN, SI
MARKEY, SP
MOE, PG
MILES, BS
TENG, CC
[J]. 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
GREENBERG, CR
DUNCAN, AMV
GREGORY, CA
SINGAL, R
GOODMAN, SI
[J]. 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
GREENBERG, CR
TAYLOR, CLD
HAWORTH, JC
SEARGEANT, LE
PHILIPPS, S
TRIGGSRAINE, B
CHODIRKER, BN
[J]. GENOMICS, 1993, 17 (01) : 215 - 217
[9] PHENOTYPIC VARIABILITY IN GLUTARIC ACIDURIA TYPE-1 - REPORT OF 14 CASES IN 5 CANADIAN INDIAN KINDREDS
HAWORTH, JC
BOOTH, FA
CHUDLEY, AE
DEGROOT, GW
DILLING, LA
GOODMAN, SI
GREENBERG, CR
MALLORY, CJ
MCCLARTY, BM
SESHIA, SS
SEARGEANT, LE
[J]. JOURNAL OF PEDIATRICS, 1991, 118 (01) : 52 - 58
[10] KOELLER DM, UNPUB CLONING STRUCT

← 1 2 →