Demystification of Chester porphyria:: A nonsense mutation in the porphobilinogen deaminase gene

被引：0
|
作者：
Gutièrrez, PP
Mir, AM
Merk, HF
Christiano, AM
Frank, J
机构：
[1] Rhein Westfal TH Aachen, Univ Clin, Dept Dermatol, NRW, D-5100 Aachen, Germany
[2] Columbia Univ, Dept Dermatol, New York, NY 10027 USA
[3] Columbia Univ, Dept Genet & Dev, New York, NY USA
来源：
JOURNAL OF INVESTIGATIVE DERMATOLOGY | 2002年 / 119卷 / 01期
关键词：
D O I：
暂无
中图分类号：
R75 [皮肤病学与性病学];
学科分类号：
100206 ;
摘要：
323
引用
收藏
页码：261 / 261
页数：1
相关论文
共 50 条
  • [31] Variegate porphyria: A frameshift mutation and a nonsense mutation in the protoporphyrinogen oxidase gene.
    Frank, J
    Jugert, FK
    Zaider, E
    Goerz, G
    Merk, HF
    PohFitzpatrick, M
    Christiano, AM
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1997, 109 (03) : 409 - 409
  • [32] ACUTE INTERMITTENT PORPHYRIA CAUSED BY A G TO C-MUTATION IN EXON-12 OF THE PORPHOBILINOGEN DEAMINASE GENE THAT RESULTS IN EXON SKIPPING
    DAIMON, M
    YAMATANI, K
    IGARASHI, M
    FUKASE, N
    OGAWA, A
    TOMINAGA, M
    SASAKI, H
    HUMAN GENETICS, 1993, 92 (06) : 549 - 553
  • [33] A novel 12-base pair deletion mutation in exon 15 of the porphobilinogen deaminase gene in a Taiwanese patient with acute intermittent porphyria
    Sakabe, Jun-ichi
    Susa, Shinji
    Daimon, Makoto
    Kato, Takeo
    Lan, Min-yu
    BLOOD CELLS MOLECULES AND DISEASES, 2008, 41 (02) : 202 - 202
  • [34] HAPLOTYPING OF THE HUMAN PORPHOBILINOGEN DEAMINASE GENE IN ACUTE INTERMITTENT PORPHYRIA BY POLYMERASE CHAIN-REACTION
    LEE, JS
    LINDSTEN, J
    ANVRET, M
    HUMAN GENETICS, 1990, 84 (03) : 241 - 243
  • [35] ACUTE INTERMITTENT PORPHYRIA - CHARACTERIZATION OF A NOVEL MUTATION IN THE STRUCTURAL GENE FOR PORPHOBILINOGEN DEAMINASE - DEMONSTRATION OF NONCATALYTIC ENZYME INTERMEDIATES STABILIZED BY BOUND SUBSTRATE
    DESNICK, RJ
    OSTASIEWICZ, LT
    TISHLER, PA
    MUSTAJOKI, P
    JOURNAL OF CLINICAL INVESTIGATION, 1985, 76 (02): : 865 - 874
  • [36] PROTOPORPHYRINOGEN OXIDASE, PORPHOBILINOGEN DEAMINASE AND UROPORPHYRINOGEN DECARBOXYLASE IN VARIEGATE PORPHYRIA
    MEISSNER, PN
    STURROCK, ED
    MOORE, MR
    DISLER, PB
    MAEDER, DL
    BIOCHEMICAL SOCIETY TRANSACTIONS, 1985, 13 (01) : 203 - 204
  • [37] ERYTHROCYTE PORPHOBILINOGEN DEAMINASE ACTIVITY IN PORPHYRIA-CUTANEA-TARDA
    SIERSEMA, PD
    DEROOIJ, FWM
    EDIXHOVENBOSDIJK, A
    WILSON, JHP
    CLINICAL CHEMISTRY, 1990, 36 (10) : 1779 - 1783
  • [38] A POINT MUTATION G-]A IN EXON-12 OF THE PORPHOBILINOGEN DEAMINASE GENE RESULTS IN EXON SKIPPING AND IS RESPONSIBLE FOR ACUTE INTERMITTENT PORPHYRIA
    GRANDCHAMP, B
    PICAT, C
    DEROOIJ, F
    BEAUMONT, C
    WILSON, P
    DEYBACH, JC
    NORDMANN, Y
    NUCLEIC ACIDS RESEARCH, 1989, 17 (16) : 6637 - 6649
  • [39] ACUTE INTERMITTENT PORPHYRIA IN THE NETHERLANDS - HETEROGENEITY OF THE ENZYME PORPHOBILINOGEN DEAMINASE
    WILSON, JHP
    DEROOY, FWM
    VELDE, KT
    NETHERLANDS JOURNAL OF MEDICINE, 1986, 29 (11): : 393 - 399
  • [40] Acute intermittent porphyria: New mutations found in the porphobilinogen deaminase gene in Czech and Slovak patients
    Martasek, P.
    Ulbrichova, D.
    Hrdinka, M.
    Flachsova, E.
    Prochazkova, J.
    Zeman, J.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2006, 29 : 79 - 79
12345