Molecular pathology of heme biosynthesis. Porphobilinogen deaminase (PBGD): Novel mutations in Czech and Slovak patients with acute intermittent porphyria (AIP)

被引:0
|
作者
Hrdinka, M [1 ]
Ulbrichova, D [1 ]
Flachsova, E [1 ]
Zeman, J [1 ]
Martasek, P [1 ]
机构
[1] Charles Univ, Dept Pediat, Sch Med 1, Prague 12808 2, Czech Republic
来源
FASEB JOURNAL | 2006年 / 20卷 / 04期
关键词
D O I
暂无
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:A97 / A98
页数:2
相关论文
共 50 条
  • [11] Heterochromatic insertion and inactivation of PBGD; a novel etiology for Acute intermittent Porphyria (AIP).
    Fox, MA
    Iyer, RK
    Jiang, Z
    Rao, PN
    AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (04) : 317 - 317
  • [12] ACUTE INTERMITTENT PORPHYRIA IN FINLAND - 19 MUTATIONS IN THE PORPHOBILINOGEN DEAMINASE GENE
    KAUPPINEN, R
    MUSTAJOKI, S
    PIHLAJA, H
    PELTONEN, L
    MUSTAJOKI, P
    HUMAN MOLECULAR GENETICS, 1995, 4 (02) : 215 - 222
  • [13] MUTATIONS IN ACUTE INTERMITTENT PORPHYRIA DETECTED BY ELISA MEASUREMENT OF PORPHOBILINOGEN DEAMINASE
    LANNFELT, L
    WETTERBERG, L
    GELLERFORS, P
    LILIUS, L
    FLODERUS, Y
    THUNELL, S
    JOURNAL OF CLINICAL CHEMISTRY AND CLINICAL BIOCHEMISTRY, 1989, 27 (11): : 857 - 862
  • [14] New Mutations of Porphobilinogen Deaminase Gene in Polish Families with Acute Intermittent Porphyria
    Szlendak, Urszula
    Bianketti, Jolanta
    Gregor, Anita
    Bykowska, Ksenia
    ADVANCES IN CLINICAL AND EXPERIMENTAL MEDICINE, 2010, 19 (04): : 497 - 501
  • [15] Porphobilinogen Deaminase Gene Mutations in Polish Patients with Non-Erythroid Acute Intermittent Porphyria
    Szlendak, Urszula
    Lipniacka, Agnieszka
    Bianketti, Jolanta
    Podolak-Dawidziak, Maria
    Bykowska, Ksenia
    ADVANCES IN CLINICAL AND EXPERIMENTAL MEDICINE, 2015, 24 (01): : 63 - 68
  • [16] 2 POINT MUTATIONS WITHIN THE PORPHOBILINOGEN DEAMINASE GENE IN SWEDISH PATIENTS WITH ACUTE INTERMITTENT PORPHYRIA
    LEE, JS
    LUNDIN, G
    ANVRET, M
    AMERICAN JOURNAL OF HUMAN GENETICS, 1991, 49 (04) : 195 - 195
  • [17] Molecular analysis of porphobilinogen (PEG) deaminase gene mutations in acute intermittent porphyria: First study in patients of Slavic origin
    Rosipal, R
    Puy, H
    Lamoril, J
    Martasek, P
    Nordmann, Y
    Deybach, JC
    SCANDINAVIAN JOURNAL OF CLINICAL & LABORATORY INVESTIGATION, 1997, 57 (03): : 217 - 224
  • [18] Structure of human porphobilinogen deaminase at 2.8 Å: the molecular basis of acute intermittent porphyria
    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
  • [19] De novo mutation found in the porphobilinogen deaminase gene in Slovak acute intermittent porphyria patient:: Molecular biochemical study
    Ulbrichova, D.
    Flachsova, E.
    Hrdinka, M.
    Saligova, J.
    Bazar, J.
    Raman, C. S.
    Martasek, P.
    PHYSIOLOGICAL RESEARCH, 2006, 55 : S145 - S154
  • [20] Acute intermittent porphyria: prevalence of mutations in the porphobilinogen deaminase gene in blood donors in France
    Nordmann, Y
    Puy, H
    DaSilva, V
    Simonin, S
    Robreau, AM
    Bonaiti, C
    Phung, LN
    Deybach, JC
    JOURNAL OF INTERNAL MEDICINE, 1997, 242 (03) : 213 - 217