DBH gene variants that cause low plasma dopamine β hydroxylase with or without a severe orthostatic syndrome -: art. no. e38

被引:27
作者
Deinum, J
Steenbergen-Spanjers, GCH
Jansen, M
Boomsma, F
Lenders, JWM
van Ittersum, FJ
Hück, N
van den Heuvel, LP
Wevers, RA
机构
[1] Univ Med Ctr Nijmegen St Radboud, Dept Med, NL-6525 GA Nijmegen, Netherlands
[2] Free Univ Amsterdam, Med Ctr, Dept Med, NL-1081 HV Amsterdam, Netherlands
[3] Univ Med Ctr Nijmegen St Radboud, Lab Pediat & Neurol, NL-6500 HB Nijmegen, Netherlands
来源
JOURNAL OF MEDICAL GENETICS | 2004年 / 41卷 / 04期
关键词
D O I
10.1136/jmg.2003.009282
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页数:5
相关论文
共 20 条
[11]  
OKA M., 1967, LIFE SCI, V6, P461, DOI 10.1016/0024-3205(67)90048-3
[12]   ISOLATED FAILURE OF AUTONOMIC NORADRENERGIC NEUROTRANSMISSION - EVIDENCE FOR IMPAIRED BETA-HYDROXYLATION OF DOPAMINE [J].
ROBERTSON, D ;
GOLDBERG, MR ;
ONROT, J ;
HOLLISTER, AS ;
WILEY, R ;
THOMPSON, JG ;
ROBERTSON, RM .
NEW ENGLAND JOURNAL OF MEDICINE, 1986, 314 (23) :1494-1497
[13]   DOPAMINE BETA-HYDROXYLASE IN HEALTH AND DISEASE [J].
RUSH, RA ;
GEFFEN, LB .
CRC CRITICAL REVIEWS IN CLINICAL LABORATORY SCIENCES, 1980, 12 (03) :241-277
[14]   APPEARANCE OF CATECHOLAMINE-SYNTHESIZING ENZYMES DURING DEVELOPMENT OF RAT SYMPATHETIC NERVOUS-SYSTEM - POSSIBLE ROLE OF TISSUE ENVIRONMENT [J].
TEITELMAN, G ;
BAKER, H ;
JOH, TH ;
REIS, DJ .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1979, 76 (01) :509-513
[15]   DETERMINATION OF CATECHOLAMINES IN HUMAN-PLASMA BY HIGH-PERFORMANCE LIQUID-CHROMATOGRAPHY - COMPARISON BETWEEN A NEW METHOD WITH FLUORESCENCE DETECTION AND AN ESTABLISHED METHOD WITH ELECTROCHEMICAL DETECTION [J].
VANDERHOORN, FAJ ;
BOOMSMA, F ;
TVELD, AJMI ;
SCHALEKAMP, MADH .
JOURNAL OF CHROMATOGRAPHY-BIOMEDICAL APPLICATIONS, 1989, 487 (01) :17-28
[16]  
VIVEROS OH, 1969, MOL PHARMACOL, V5, P60
[17]  
WEINSHILBOUM RM, 1975, AM J HUM GENET, V27, P573
[18]  
WEINSHILBOUM RM, 1978, PHARMACOL REV, V30, P133
[19]   A revised allele frequency estimate and haplotype analysis of the DBH deficiency mutation IVS1+2T → C in African- and European-Americans [J].
Zabetian, CP ;
Romero, R ;
Robertson, D ;
Sharma, S ;
Padbury, JF ;
Kuivaniemi, H ;
Kim, KS ;
Kim, CH ;
Köhnke, MD ;
Kranzler, HR ;
Gelernter, J ;
Cubells, JF .
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2003, 123A (02) :190-192
[20]   A quantitative-trait analysis of human plasma-dopamine β-hydroxylase activity:: Evidence for a major functional polymorphism at the DBH locus [J].
Zabetian, CP ;
Anderson, GM ;
Buxbaum, SG ;
Elston, RC ;
Ichinose, H ;
Nagatsu, T ;
Kim, KS ;
Kim, CH ;
Malison, RT ;
Gelernter, J ;
Cubells, JF .
AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 68 (02) :515-522