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
  • [11] ACUTE INTERMITTENT PORPHYRIA CAUSED BY A C-]T MUTATION THAT PRODUCES A STOP CODON IN THE PORPHOBILINOGEN DEAMINASE GENE
    SCOBIE, GA
    LLEWELLYN, DH
    URQUHART, AJ
    SMYTH, SJ
    KALSHEKER, NA
    HARRISON, PR
    ELDER, GH
    HUMAN GENETICS, 1990, 85 (06) : 631 - 634
  • [12] PROTOPORPHYRINOGEN OXIDASE AND PORPHOBILINOGEN DEAMINASE IN VARIEGATE PORPHYRIA
    MEISSNER, PN
    DAY, RS
    MOORE, MR
    DISLER, PB
    HARLEY, E
    EUROPEAN JOURNAL OF CLINICAL INVESTIGATION, 1986, 16 (03) : 257 - 261
  • [13] DETECTION OF A HIGH MUTATION FREQUENCY IN EXON-12 OF THE PORPHOBILINOGEN DEAMINASE GENE IN PATIENTS WITH ACUTE INTERMITTENT PORPHYRIA
    MGONE, CS
    LANYON, WG
    MOORE, MR
    LOUIE, GV
    CONNOR, JM
    HUMAN GENETICS, 1993, 92 (06) : 619 - 622
  • [14] HETEROGENEITY OF PORPHOBILINOGEN DEAMINASE IN ACUTE INTERMITTENT PORPHYRIA
    WILSON, JHP
    DEROOIJ, FWM
    HAMER, CM
    TEVELDE, K
    NETHERLANDS JOURNAL OF MEDICINE, 1988, 32 (1-2): : 104 - 104
  • [15] Genetic investigation of the porphobilinogen deaminase gene in Swedish acute intermittent porphyria families
    Gunnel Lundin
    Jin-Sung Lee
    Stig Thunell
    M. Anvret
    Human Genetics, 1997, 100 : 63 - 66
  • [16] Novel mutations in the porphobilinogen deaminase gene in Czech acute intermittent porphyria patients
    Ulbrichova, D.
    Hrdinka, M.
    Flachsova, E.
    Prochazkova, J.
    Zeman, J.
    Martasek, P.
    FEBS JOURNAL, 2006, 273 : 309 - 309
  • [17] 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
  • [18] 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
  • [19] Genetic investigation of the porphobilinogen deaminase gene in Swedish acute intermittent porphyria families
    Lundin, G
    Lee, JS
    Thunell, S
    Anvret, M
    HUMAN GENETICS, 1997, 100 (01) : 63 - 66
  • [20] Molecular genetic study of acute intermittent porphyria in Russia: Mutation analysis and functional polymorphism search in porphobilinogen deaminase gene
    Surin, V. L.
    Luchinina, Yu. A.
    Selivanova, D. S.
    Pustovoit, Ya. S.
    Karpova, I. V.
    Pivnik, A. V.
    Luk'ianenko, A. V.
    Kravchenko, S. K.
    RUSSIAN JOURNAL OF GENETICS, 2010, 46 (04) : 476 - 487