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
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] 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
  • [32] 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
  • [33] ERYTHROCYTE PORPHOBILINOGEN DEAMINASE ACTIVITY IN PORPHYRIA-CUTANEA-TARDA
    SIERSEMA, PD
    DEROOIJ, FWM
    EDIXHOVENBOSDIJK, A
    WILSON, JHP
    CLINICAL CHEMISTRY, 1990, 36 (10) : 1779 - 1783
  • [34] 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
  • [35] 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
  • [36] 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
  • [37] 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
  • [38] 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
  • [39] 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
  • [40] Three Novel Mutations in Porphobilinogen Deaminase Gene Identified in Russian Patients with Acute Intermittent Porphyria
    V. L. Surin
    A. V. Luk'yanenko
    I. V. Karpova
    A. V. Misyurin
    Ya. S. Pustovoit
    A. V. Pivnik
    Russian Journal of Genetics, 2001, 37 : 566 - 572