MOLECULAR ANALYSIS OF ACUTE INTERMITTENT PORPHYRIA IN A FINNISH FAMILY WITH NORMAL ERYTHROCYTE PORPHOBILINOGEN DEAMINASE

被引：65
作者：
GRANDCHAMP, B
PICAT, C
KAUPPINEN, R
MIGNOTTE, V
PELTONEN, L
MUSTAJOKI, P
ROMEO, PH
GOOSSENS, M
NORDMANN, Y
机构：
[1] UNIV HELSINKI,DEPT MED 3,SF-00100 HELSINKI 10,FINLAND
[2] HOP HENRI MONDOR,INSERM,U91,F-94010 CRETEIL,FRANCE
[3] NATL PUBL HLTH INST,MOLEC GENET LAB,SF-00280 HELSINKI 28,FINLAND
[4] HOP LOUIS MOURIER,BIOCHIM LAB,F-92701 COLOMBES,FRANCE
来源：
EUROPEAN JOURNAL OF CLINICAL INVESTIGATION | 1989年 / 19卷 / 05期
关键词：
D O I：
10.1111/j.1365-2362.1989.tb00252.x
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
引用
收藏
页码：415 / 418
页数：4
相关论文
共 17 条
  • [1] CHRETIEN S, 1988, P NATL ACAD SCI USA, V5, P6
  • [2] DESNICK RJ, 1985, J CLIN INVEST, V76, P505
  • [3] GATTONI R, 1988, BLOOD S1, V72, P5
  • [4] TISSUE-SPECIFIC SPLICING MUTATION IN ACUTE INTERMITTENT PORPHYRIA
    GRANDCHAMP, B
    PICAT, C
    MIGNOTTE, V
    WILSON, JHP
    TEVELDE, K
    SANDKUYL, L
    ROMEO, PH
    GOOSSENS, M
    NORDMANN, Y
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1989, 86 (02) : 661 - 664
  • [5] TISSUE-SPECIFIC EXPRESSION OF PORPHOBILINOGEN DEAMINASE - 2 ISOENZYMES FROM A SINGLE GENE
    GRANDCHAMP, B
    DEVERNEUIL, H
    BEAUMONT, C
    CHRETIEN, S
    WALTER, O
    NORDMANN, Y
    [J]. EUROPEAN JOURNAL OF BIOCHEMISTRY, 1987, 162 (01): : 105 - 110
  • [6] KAPPAS A, 1983, METABOLIC BASIS INHE, P1301
  • [7] AN IMPROVED METHOD FOR PRENATAL-DIAGNOSIS OF GENETIC-DISEASES BY ANALYSIS OF AMPLIFIED DNA-SEQUENCES - APPLICATION TO HEMOPHILIA-A
    KOGAN, SC
    DOHERTY, M
    GITSCHIER, J
    [J]. NEW ENGLAND JOURNAL OF MEDICINE, 1987, 317 (16) : 985 - 990
  • [8] LLEWELLYN DH, 1987, LANCET, V2, P706
  • [9] MANIATIS T, MOL CLONING
  • [10] A NEW PAIR OF M13 VECTORS FOR SELECTING EITHER DNA STRAND OF DOUBLE-DIGEST RESTRICTION FRAGMENTS
    MESSING, J
    VIEIRA, J
    [J]. GENE, 1982, 19 (03) : 269 - 276
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