NOVEL MUTATIONS IN THE PORPHOBILINOGEN DEAMINASE GENE IN CZECH AND SLOVAK ACUTE INTERMITTENT PORPHYRIA PATIENTS

被引:0
作者
Ulbrichova, D. [1 ]
Hrdinka, M. [1 ]
Flachsova, E. [1 ]
Vesela, K. [1 ]
Prochazkova, J. [1 ]
Zeman, J. [1 ]
Martasek, P. [1 ]
机构
[1] Charles Univ Prague, Sch Med 1, Dept Pediat, Prague 12808, Czech Republic
关键词
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:259 / 259
页数:1
相关论文
共 50 条
[41]   DNA POLYMORPHISMS WITHIN THE PORPHOBILINOGEN DEAMINASE GENE IN 2 SWEDISH FAMILIES WITH ACUTE INTERMITTENT PORPHYRIA [J].
LEE, JS ;
ANVRET, M ;
LINDSTEN, J ;
LANNFELT, L ;
GELLERFORS, P ;
WETTERBERG, L ;
FLODERUS, Y ;
THUNELL, S .
HUMAN GENETICS, 1988, 79 (04) :379-381
[42]   RFLPS AND HAPLOTYPES OF PORPHOBILINOGEN-DEAMINASE (PBG-D) GENE IN ACUTE INTERMITTENT PORPHYRIA [J].
LEE, JS ;
LANNFELT, L ;
ANVRET, M ;
LINDSTEN, J ;
FLODERUS, Y ;
WETTERBERG, L ;
THUNELL, S .
MOLECULAR ASPECTS OF MEDICINE, 1990, 11 (1-2) :128-129
[43]   Acute intermittent porphyria in Sweden. Molecular, functional and clinical consequences of some new mutations found in the porphobilinogen deaminase gene [J].
Floderus, Y ;
Shoolingin-Jordan, PM ;
Harper, P .
CLINICAL GENETICS, 2002, 62 (04) :288-297
[44]   Ancestral founder of mutation W283X in the porphobilinogen deaminase gene among acute intermittent porphyria patients [J].
Schneider-Yin, XY ;
Hergersberg, M ;
Goldgar, DE ;
Rüfenacht, UB ;
Schuurmans, MM ;
Puy, H ;
Deybach, JC ;
Minder, EI .
HUMAN HEREDITY, 2002, 54 (02) :69-81
[45]   ACUTE INTERMITTENT PORPHYRIA IN 2 PATIENTS ON ANTICONVULSANT THERAPY AND WITH NORMAL ERYTHROCYTE PORPHOBILINOGEN DEAMINASE ACTIVITY [J].
HERRICK, AL ;
MCCOLL, KEL ;
MOORE, MR ;
BRODIE, MJ ;
ADAMSON, AR ;
GOLDBERG, A .
BRITISH JOURNAL OF CLINICAL PHARMACOLOGY, 1989, 27 (04) :491-497
[46]   Structure of human porphobilinogen deaminase at 2.8 Å: the molecular basis of acute intermittent porphyria [J].
Gill, Raj ;
Kolstoe, Simon E. ;
Mohammed, Fiyaz ;
Al D-Bass, Abeer ;
Mosely, Julie E. ;
Sarwar, Mohammed ;
Cooper, Jonathan B. ;
Wood, Stephen P. ;
Shoolingin-Jordan, Peter M. .
BIOCHEMICAL JOURNAL, 2009, 420 :17-25
[47]   RED-BLOOD-CELL PORPHOBILINOGEN DEAMINASE IN THE EVALUATION OF ACUTE INTERMITTENT PORPHYRIA [J].
PIERACH, CA ;
WEIMER, MK ;
CARDINAL, RA ;
BOSSENMAIER, IC ;
BLOMMER, JR .
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 1987, 257 (01) :60-61
[48]   May 2006 update in porphobilinogen deaminase gene polymorphisms and mutations causing acute intermittent porphyria. Comparison with the situation in Slavic population [J].
Hrdinka, M. ;
Puy, H. ;
Martasek, P. .
PHYSIOLOGICAL RESEARCH, 2006, 55 :S119-S136
[49]   Porphobilinogen deaminase gene in African and Afro-Caribbean ethnic groups: mutations causing acute intermittent porphyria and specific intragenic polymorphisms [J].
Robreau-Fraolini, AM ;
Puy, H ;
Aquaron, C ;
Bogard, C ;
Traore, M ;
Nordmann, Y ;
Aquaron, R ;
Deybach, JC .
HUMAN GENETICS, 2000, 107 (02) :150-159
[50]   Porphobilinogen deaminase gene in African and Afro-Caribbean ethnic groups: mutations causing acute intermittent porphyria and specific intragenic polymorphisms [J].
A.M. Robreau-Fraolini ;
H. Puy ;
C. Aquaron ;
C. Bogard ;
M. Traore ;
Y. Nordmann ;
R. Aquaron ;
J.C. Deybach .
Human Genetics, 2000, 107 :150-159