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
  • [1] Demystification of Chester porphyria:: A nonsense mutation in the porphobilinogen deaminase gene
    Poblete-Gutierrez, P.
    Wiederholt, T.
    Martinez-Mir, A.
    Merk, H. F.
    Connor, J. M.
    Christiano, A. M.
    Frank, J.
    PHYSIOLOGICAL RESEARCH, 2006, 55 : S137 - S144
  • [2] A novel mutation in the porphobilinogen deaminase gene in an extended Chinese family with acute intermittent porphyria
    Yang, Jing
    Wang, Honglian
    Yin, Kunlun
    Hua, Baolai
    Zhu, Tienan
    Zhao, Yongqiang
    Guo, Shubin
    Yu, Xuezhong
    Wu, Wei
    Zhou, Zhou
    GENE, 2015, 565 (02) : 288 - 290
  • [3] HIGH PREVALENCE OF A POINT MUTATION IN THE PORPHOBILINOGEN DEAMINASE GENE IN DUTCH PATIENTS WITH ACUTE INTERMITTENT PORPHYRIA
    GU, XF
    DEROOIJ, F
    LEE, JS
    VELDE, KT
    DEYBACH, JC
    NORDMANN, Y
    GRANDCHAMP, B
    HUMAN GENETICS, 1993, 91 (02) : 128 - 130
  • [4] Reversible MRI findings in a case of acute intermittent porphyria with a novel mutation in the porphobilinogen deaminase gene
    Yang, Jing
    Yang, Hang
    Chen, Qianlong
    Hua, Baolai
    Zhu, Tienan
    Zhao, Yongqiang
    Yu, Xuezhong
    Zhu, Huadong
    Zhou, Zhou
    BLOOD CELLS MOLECULES AND DISEASES, 2017, 63 : 21 - 24
  • [5] Identification of a prevalent nonsense mutation (W283X) and two novel mutations in the porphobilinogen deaminase gene of Swiss patients with acute intermittent porphyria
    Schneider-Yin, X
    Bogard, C
    Rüfenacht, UB
    Puy, H
    Nordmann, Y
    Minder, EI
    Deybach, JC
    HUMAN HEREDITY, 2000, 50 (04) : 247 - 250
  • [6] IDENTIFICATION OF THE MOST COMMON MUTATION WITHIN THE PORPHOBILINOGEN DEAMINASE GENE IN SWEDISH PATIENTS WITH ACUTE INTERMITTENT PORPHYRIA
    LEE, JS
    ANVRET, M
    PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1991, 88 (23) : 10912 - 10915
  • [7] DNA POLYMORPHISM OF HUMAN PORPHOBILINOGEN DEAMINASE GENE IN ACUTE INTERMITTENT PORPHYRIA
    LLEWELLYN, DH
    KALSHEKER, NA
    HARRISON, PR
    PICAT, C
    ROMEO, PH
    ELDER, GH
    MARSH, OWM
    GRANDCHAMP, B
    NORDMANN, Y
    GOOSSENS, M
    LANCET, 1987, 2 (8561): : 706 - 708
  • [8] 2 NOVEL MUTATIONS OF THE PORPHOBILINOGEN DEAMINASE GENE IN ACUTE INTERMITTENT PORPHYRIA
    GU, XF
    DEROOIJ, F
    DEBAAR, E
    BRUYLAND, M
    LISSENS, W
    NORDMANN, Y
    GRANDCHAMP, B
    HUMAN MOLECULAR GENETICS, 1993, 2 (10) : 1735 - 1736
  • [9] 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
  • [10] 4 MUTATIONS IN THE PORPHOBILINOGEN DEAMINASE GENE IN PATIENTS WITH ACUTE INTERMITTENT PORPHYRIA
    LUNDIN, G
    HASHEMI, J
    FLODERUS, Y
    THUNELL, S
    SAGEN, E
    LAEGREID, A
    WASSIF, W
    PETERS, T
    ANVRET, M
    JOURNAL OF MEDICAL GENETICS, 1995, 32 (12) : 979 - 981
12345