Nine novel mutations in the hydroxymethylbilane synthase gene of Polish patients with acute intermittent porphyria

被引:4
|
作者
Schneider-Yin, X [1 ]
Szlendak, U [1 ]
Lipniacka, AI [1 ]
Minder, EI [1 ]
Gregor, A [1 ]
机构
[1] Porphyria Ctr, Inst Hematol & Blood Transfus, Warsaw, Poland
关键词
D O I
10.1111/j.1399-0004.2006.00575.x
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:284 / 286
页数:3
相关论文
共 50 条
  • [31] 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
  • [32] First Report of a Low-Frequency Mosaic Mutation in the Hydroxymethylbilane Synthase Gene Causing Acute Intermittent Porphyria
    Belosevic, Adrian
    Minder, Anna-Elisabeth
    Gueuning, Morgan
    van Breemen, Franziska
    Thun, Gian Andri
    Mattle-Greminger, Maja P.
    Meyer, Stefan
    Baumer, Alessandra
    Minder, Elisabeth I.
    Schneider-Yin, Xiaoye
    Barman-Aksoezen, Jasmin
    LIFE-BASEL, 2023, 13 (09):
  • [33] NOVEL MUTATIONS IN THE PORPHOBILINOGEN DEAMINASE GENE IN CZECH AND SLOVAK ACUTE INTERMITTENT PORPHYRIA PATIENTS
    Ulbrichova, D.
    Hrdinka, M.
    Flachsova, E.
    Vesela, K.
    Prochazkova, J.
    Zeman, J.
    Martasek, P.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2005, 28 : 259 - 259
  • [34] HYDROXYMETHYLBILANE SYNTHASE - COMPLETE GENOMIC SEQUENCE, AMPLIFIABLE RFLPS AND MUTATION DETECTION IN ACUTE INTERMITTENT PORPHYRIA
    YOO, HW
    WARNER, CA
    CHEN, CH
    DESNICK, RJ
    CLINICAL RESEARCH, 1992, 40 (02): : A329 - A329
  • [35] ACUTE INTERMITTENT PORPHYRIA - IDENTIFICATION AND EXPRESSION OF EXONIC MUTATIONS IN THE HYDROXYMETHYLBILANE SYNTHASE GENE - AN INITIATION CODON MISSENSE MUTATION IN THE HOUSEKEEPING TRANSCRIPT CAUSES VARIANT ACUTE INTERMITTENT PORPHYRIA WITH NORMAL EXPRESSION OF THE ERYTHROID-SPECIFIC ENZYME
    CHEN, CH
    ASTRIN, KH
    LEE, G
    ANDERSON, KE
    DESNICK, RJ
    JOURNAL OF CLINICAL INVESTIGATION, 1994, 94 (05): : 1927 - 1937
  • [36] 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
  • [37] A novel 55-basepair deletion of hydroxymethylbilane synthase gene found in a Chinese patient with acute intermittent porphyria and her family A case report
    Ren, Yi
    Xu, Lin-Xin
    Liu, Yun-Feng
    Xiang, Chen-Yu
    Gao, Fei
    Wang, Yan
    Bai, Tao
    Yin, Jian-Hong
    Zhao, Yang-Lu
    Yang, Jing
    MEDICINE, 2018, 97 (37)
  • [38] Characterization of two missense variants in the hydroxymethylbilane synthase gene in the Israeli population, which differ in their associations with acute intermittent porphyria
    Schneider-Yin, Xiaoye
    Ulbrichova, Dana
    Mamet, Rivka
    Martasek, Pavel
    Marohnic, Christopher C.
    Goren, Avner
    Minder, Elisabeth I.
    Schoenfeld, Nili
    MOLECULAR GENETICS AND METABOLISM, 2008, 94 (03) : 343 - 346
  • [39] Acute intermittent porphyria: alternative splicing of hydroxymethylbilane synthase mRNA excludes exons 3 and 12
    Ong, PML
    Lanyon, WG
    Moore, MR
    Connor, JM
    MOLECULAR AND CELLULAR PROBES, 1998, 12 (02) : 63 - 70
  • [40] Three novel mutations in porphobilinogen deaminase gene identified in Russian patients with acute intermittent porphyria
    Surin, VL
    Luk'yanenko, AV
    Karpova, IV
    Misyurin, AV
    Pustovoit, YS
    Pivnik, AV
    RUSSIAN JOURNAL OF GENETICS, 2001, 37 (05) : 566 - 572